Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP1273.RA2_OfNkpwFqZx38TH-HtF8Sov6KOGU-T0jmeWXiAJlY0130_assertion description "[To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1273.RA2_OfNkpwFqZx38TH-HtF8Sov6KOGU-T0jmeWXiAJlY0130_provenance.
- NP1277.RA5nNHo-oD9gWrZge7_fdIn-DNPnmqagneKefqW51VeJI130_assertion description "[Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1277.RA5nNHo-oD9gWrZge7_fdIn-DNPnmqagneKefqW51VeJI130_provenance.
- NP1279.RA37StsYFh8Tg50v15thoPtI7jAoEDhSEk6DSIVyywDH8130_assertion description "[Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1279.RA37StsYFh8Tg50v15thoPtI7jAoEDhSEk6DSIVyywDH8130_provenance.
- NP1281.RA0MS7VX-mwnMeYBugLeW21qguN1bTzNBB1OZZNW9yXMw130_assertion description "[Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1281.RA0MS7VX-mwnMeYBugLeW21qguN1bTzNBB1OZZNW9yXMw130_provenance.
- NP1286.RA9jaYirmpB9QOGM8N_mS5dAfHfk3pA_p3h-n2C_YR3MU130_assertion description "[Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1286.RA9jaYirmpB9QOGM8N_mS5dAfHfk3pA_p3h-n2C_YR3MU130_provenance.
- NP1294.RA6Zu5veNcuUJmnpdA7epo1N3PsMkyTu1EC9dnDTMiHXY130_assertion description "[Osteogenesis imperfecta: clinical, biochemical and molecular findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1294.RA6Zu5veNcuUJmnpdA7epo1N3PsMkyTu1EC9dnDTMiHXY130_provenance.
- NP1298.RA82y55yUGC0-ym6gkcIa3338GjMoEq5Jhuw5pZO53k9w130_assertion description "[Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1298.RA82y55yUGC0-ym6gkcIa3338GjMoEq5Jhuw5pZO53k9w130_provenance.
- NP1307.RA5ybByoVmYIqfpoc9xqye7r2jMYI6UvhfGN0gnsOMRfQ130_assertion description "[Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1307.RA5ybByoVmYIqfpoc9xqye7r2jMYI6UvhfGN0gnsOMRfQ130_provenance.
- NP1309.RA78x2iY82wE2Ssqkd-9uD2SUGXVAFprEaWstlqqSMzGo130_assertion description "[To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1309.RA78x2iY82wE2Ssqkd-9uD2SUGXVAFprEaWstlqqSMzGo130_provenance.
- NP1314.RA23q7nq3xNc_3HEnwPOxRGjW8YRVZuLfFszvUF3yDJbg130_assertion description "[A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1314.RA23q7nq3xNc_3HEnwPOxRGjW8YRVZuLfFszvUF3yDJbg130_provenance.
- NP1316.RA611d4fyqqWCcckCdaxmWAc3DbBKNaXcMebw4WD9Y6UA130_assertion description "[Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1316.RA611d4fyqqWCcckCdaxmWAc3DbBKNaXcMebw4WD9Y6UA130_provenance.
- NP1317.RA6XxtggwJRlb2ReVr7XZWIroyruuwjJxVOfVHsnnFvN8130_assertion description "[Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1317.RA6XxtggwJRlb2ReVr7XZWIroyruuwjJxVOfVHsnnFvN8130_provenance.
- NP1320.RA7mtjKO662rM0dGRtz8jj5EY49Wcgyl3du5HA4xOgePo130_assertion description "[Osteogenesis imperfecta: clinical, biochemical and molecular findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1320.RA7mtjKO662rM0dGRtz8jj5EY49Wcgyl3du5HA4xOgePo130_provenance.
- NP1324.RA2NnFlJ59Jpo_xDuNWcvA5_a45s765A28eLfQA6rtnsA130_assertion description "[Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1324.RA2NnFlJ59Jpo_xDuNWcvA5_a45s765A28eLfQA6rtnsA130_provenance.
- NP1328.RAz8dIO7HrsFN-_R5RZ8QpBo94bbpa3h2ysmVa5vc83kI130_assertion description "[Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1328.RAz8dIO7HrsFN-_R5RZ8QpBo94bbpa3h2ysmVa5vc83kI130_provenance.
- NP1330.RA3xHExe743C01bWBFmlEJvax7TmpsNKUH2I-b5T8FK98130_assertion description "[Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1330.RA3xHExe743C01bWBFmlEJvax7TmpsNKUH2I-b5T8FK98130_provenance.
- NP1331.RA0kDy14Tyevzx5SG391p2h-W_04kKfF6HR2SSwl_wbjM130_assertion description "[Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1331.RA0kDy14Tyevzx5SG391p2h-W_04kKfF6HR2SSwl_wbjM130_provenance.
- NP1335.RA-T9XABtDINTjMGCzgZQKNZSB8jjDQD9O2mWXr2h_7fM130_assertion description "[Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1335.RA-T9XABtDINTjMGCzgZQKNZSB8jjDQD9O2mWXr2h_7fM130_provenance.
- NP1340.RAyTiGfv7IwdiQ3NQkKSCNcwvOQbyOIQUb67cI7zg6HFE130_assertion description "[Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1340.RAyTiGfv7IwdiQ3NQkKSCNcwvOQbyOIQUb67cI7zg6HFE130_provenance.
- NP1341.RA4LgvMw44iL6-AB6V2etlibgx-xVMKAbx1AKR0ubtFFU130_assertion description "[A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1341.RA4LgvMw44iL6-AB6V2etlibgx-xVMKAbx1AKR0ubtFFU130_provenance.
- NP1345.RA-2wZucMdQ31pvMwMwexNFHelRMD1JGcuUjCfAbJh37g130_assertion description "[Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1345.RA-2wZucMdQ31pvMwMwexNFHelRMD1JGcuUjCfAbJh37g130_provenance.
- NP1346.RA6o3_SE9DOAWDryXU9Gp85W_m8BWgQot3JR5WU_2EB0M130_assertion description "[Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1346.RA6o3_SE9DOAWDryXU9Gp85W_m8BWgQot3JR5WU_2EB0M130_provenance.
- NP1349.RA_Mk_q8o1QzA2QWtieaap_TLPp9WzDJ9NzoB4bEuwcM4130_assertion description "[PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1349.RA_Mk_q8o1QzA2QWtieaap_TLPp9WzDJ9NzoB4bEuwcM4130_provenance.
- NP1350.RA41QhPPJIh7iDSZfnP8QrHEBr1l9huacedsIXj3Rzyr0130_assertion description "[Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1350.RA41QhPPJIh7iDSZfnP8QrHEBr1l9huacedsIXj3Rzyr0130_provenance.
- NP1351.RA5i0_sMtavWE9DfgI8AjS3xzR1dQIw3OQ_x4XpUo5mK8130_assertion description "[Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1351.RA5i0_sMtavWE9DfgI8AjS3xzR1dQIw3OQ_x4XpUo5mK8130_provenance.
- NP1353.RA-iDdhlkaTDo8etKT16IT2hs-7ukFLn05XXDFI74Dvp8130_assertion description "[Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1353.RA-iDdhlkaTDo8etKT16IT2hs-7ukFLn05XXDFI74Dvp8130_provenance.
- NP1355.RAwGbzmWiXbrxeG6crBkTY0_VCbwmNu9NqFrfk52BFNk4130_assertion description "[Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1355.RAwGbzmWiXbrxeG6crBkTY0_VCbwmNu9NqFrfk52BFNk4130_provenance.
- NP1356.RA9VeQExqCZ1mIrJc3hpWiJja4QB5rWmfB3CRZgslr1Oc130_assertion description "[A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1356.RA9VeQExqCZ1mIrJc3hpWiJja4QB5rWmfB3CRZgslr1Oc130_provenance.
- NP1360.RA4LxwNtMh8Nl8WYg5yj3TQI1Y7E0-uRZEEl17QpmgPOw130_assertion description "[Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1360.RA4LxwNtMh8Nl8WYg5yj3TQI1Y7E0-uRZEEl17QpmgPOw130_provenance.
- NP1365.RA4CTuI3k5qg4ux1jl8xZR5CQCZ78EQRTd9MLrUtSw2c8130_assertion description "[A recurrent mutation in type II collagen gene causes Legg-Calv-Perthes disease in a Japanese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1365.RA4CTuI3k5qg4ux1jl8xZR5CQCZ78EQRTd9MLrUtSw2c8130_provenance.
- NP1368.RA2pJ65SNCLVkKhNrqQxLvxh2owvxbnrVH1G0Ogw9DPkY130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1368.RA2pJ65SNCLVkKhNrqQxLvxh2owvxbnrVH1G0Ogw9DPkY130_provenance.
- NP1370.RA1p0TswgOZpIwkzgdSc8J8APKOIRrAE4ssmhXYe6ze4s130_assertion description "[Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1370.RA1p0TswgOZpIwkzgdSc8J8APKOIRrAE4ssmhXYe6ze4s130_provenance.
- NP1372.RA9Doww1C1qFNw9u1xk8Oco62lzYZN38kcm5tpW2yKqAo130_assertion description "[Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1372.RA9Doww1C1qFNw9u1xk8Oco62lzYZN38kcm5tpW2yKqAo130_provenance.
- NP1374.RAwg8nRZKUm5vltAhVdmXtorqs-eC70KJ8l2hCofzEDdw130_assertion description "[COL3A1 mutation leading to acrogeria (Gottron Type)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1374.RAwg8nRZKUm5vltAhVdmXtorqs-eC70KJ8l2hCofzEDdw130_provenance.
- NP1382.RA4T_aPl1yp5cLo_-PKlWNxLybjKFsgQG6Py3ikO_8lws130_assertion description "[Ophthalmological features associated with COL4A1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1382.RA4T_aPl1yp5cLo_-PKlWNxLybjKFsgQG6Py3ikO_8lws130_provenance.
- NP1384.RA2RzyTm9kGKyNQBa081mw85khsKaT21cu7Brj3FXVmeg130_assertion description "[COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1384.RA2RzyTm9kGKyNQBa081mw85khsKaT21cu7Brj3FXVmeg130_provenance.
- NP1394.RA3Iw9N4Bn14kCmqA8qna_7iq8NIq4fSCiITnwmCENl2A130_assertion description "[Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1394.RA3Iw9N4Bn14kCmqA8qna_7iq8NIq4fSCiITnwmCENl2A130_provenance.
- NP1398.RA9XoOiYA4155-EeIxCOtVUr1ANpGMcZXQYc76C6xC6xM130_assertion description "[Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1398.RA9XoOiYA4155-EeIxCOtVUr1ANpGMcZXQYc76C6xC6xM130_provenance.
- NP1401.RA7fikzkHRyJWv87DNkcnBC_sjx_OWogRb_HJM7wRolaQ130_assertion description "[X-linked Alport's syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen alpha5 chain (alpha5[IV]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1401.RA7fikzkHRyJWv87DNkcnBC_sjx_OWogRb_HJM7wRolaQ130_provenance.
- NP1402.RA3QvkpkJ5IjQCgdDHyjjcpMUeG9qX021tgOrH4kAArJE130_assertion description "[Mutations in the basement membrane collagen gene COL4A5 cause the progressive renal glomerular nephropathy and typical hearing loss that occur in X-linked Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1402.RA3QvkpkJ5IjQCgdDHyjjcpMUeG9qX021tgOrH4kAArJE130_provenance.
- NP1403.RA6zxozc5GrknIeTU7dSgsES843W2gr-GTD4dgfwglS4c130_assertion description "[Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1403.RA6zxozc5GrknIeTU7dSgsES843W2gr-GTD4dgfwglS4c130_provenance.
- NP1409.RA-w4AIwfCaejHtxxgvlz1SqfVeAt5AVCfSX__6npGZVM130_assertion description "[Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1409.RA-w4AIwfCaejHtxxgvlz1SqfVeAt5AVCfSX__6npGZVM130_provenance.
- NP1414.RA2pqcSXaqCdhy1g7xYqqN4QFlChGi0gA_S-uy4ToC9CA130_assertion description "[Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1414.RA2pqcSXaqCdhy1g7xYqqN4QFlChGi0gA_S-uy4ToC9CA130_provenance.
- NP1415.RA0-izh7MJF4ztzIxZSojMrWFVGa3bSvNxoCgnHJa2MaE130_assertion description "[Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1415.RA0-izh7MJF4ztzIxZSojMrWFVGa3bSvNxoCgnHJa2MaE130_provenance.
- NP1416.RA6qXAY2O--I-w4Uq_c9Ka1J-FHlFGCDBRE-PzfgIoa6o130_assertion description "[Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1416.RA6qXAY2O--I-w4Uq_c9Ka1J-FHlFGCDBRE-PzfgIoa6o130_provenance.
- NP1420.RA77o99QMW-d0JzsQMdOZZApt5-Q2GAUWb6AHRYYdFVB8130_assertion description "[Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1420.RA77o99QMW-d0JzsQMdOZZApt5-Q2GAUWb6AHRYYdFVB8130_provenance.
- NP1422.RA_tv-4Bl0KJnjBUcF6dhXJTQoFwOpCefPRnICghlOuns130_assertion description "[Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1422.RA_tv-4Bl0KJnjBUcF6dhXJTQoFwOpCefPRnICghlOuns130_provenance.
- NP1424.RA_ZrEIpa3qjLAsqA4NI4uyN6QRPaRMS_phEiEBdlOuCI130_assertion description "[Molecular consequences of dominant Bethlem myopathy collagen VI mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1424.RA_ZrEIpa3qjLAsqA4NI4uyN6QRPaRMS_phEiEBdlOuCI130_provenance.
- NP1425.RAwSIgu6o1yMBDN-isPaZXGu6ZqEYgDQi1Ty-6P85aaJw130_assertion description "[Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1425.RAwSIgu6o1yMBDN-isPaZXGu6ZqEYgDQi1Ty-6P85aaJw130_provenance.
- NP1436.RA5BM0BEMgCS0AyKF7MAA_yIBVOFk9MrebBw_oRnTFvBg130_assertion description "[Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1436.RA5BM0BEMgCS0AyKF7MAA_yIBVOFk9MrebBw_oRnTFvBg130_provenance.
- NP1439.RA5TfnylKtqwzw5cqDmI_gzDROzTJ4lG8w05NGucE4xR4130_assertion description "[Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1439.RA5TfnylKtqwzw5cqDmI_gzDROzTJ4lG8w05NGucE4xR4130_provenance.
- NP1444.RA9MDpkhtw9R3FULniiXBi4WNhKbcHsAXbGs2Vot3bRDo130_assertion description "[Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1444.RA9MDpkhtw9R3FULniiXBi4WNhKbcHsAXbGs2Vot3bRDo130_provenance.
- NP1446.RAy8IXde0bZ97z-BOuvZfuouRh_albqYyJeLqc8WB7eHs130_assertion description "[The second case had a single glycine substitution mutation (G2079E) in COL7A1 and had therefore DDEB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1446.RAy8IXde0bZ97z-BOuvZfuouRh_albqYyJeLqc8WB7eHs130_provenance.
- NP1448.RAzHGzdT4liEChTRWQkJG92eguyXa1-M-dmqQYDzpXUrw130_assertion description "[Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1448.RAzHGzdT4liEChTRWQkJG92eguyXa1-M-dmqQYDzpXUrw130_provenance.
- NP1451.RA3sTzI-f_ufHSfm_YzBwY0w8kqW2naWN11ZBVxAWeplg130_assertion description "[Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1451.RA3sTzI-f_ufHSfm_YzBwY0w8kqW2naWN11ZBVxAWeplg130_provenance.
- NP1453.RA4EzhmooH97l0PZ3lrez_iqAqjC8oDsiT8SlMnE0HU6Q130_assertion description "[Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1453.RA4EzhmooH97l0PZ3lrez_iqAqjC8oDsiT8SlMnE0HU6Q130_provenance.
- NP1454.RA2isWqKqzbmhwQgG4_XHloR8Xc-iCfPlQ_LAaWIDyUQs130_assertion description "[Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1454.RA2isWqKqzbmhwQgG4_XHloR8Xc-iCfPlQ_LAaWIDyUQs130_provenance.
- NP1468.RA2rMf-IFmiXvMJf1iRMNgSlVGVM0E3AsKZdDDllTbfCM130_assertion description "[Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1468.RA2rMf-IFmiXvMJf1iRMNgSlVGVM0E3AsKZdDDllTbfCM130_provenance.
- NP1471.RAy8jvGqFLermrto0ypr8CVJvMrkq6j3IGomjKAS-bV5I130_assertion description "[Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1471.RAy8jvGqFLermrto0ypr8CVJvMrkq6j3IGomjKAS-bV5I130_provenance.
- NP1473.RA7AE1rc9kCuVDyupEppSaUjGlv7WDbHz-X7WSMUJPI9s130_assertion description "[COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1473.RA7AE1rc9kCuVDyupEppSaUjGlv7WDbHz-X7WSMUJPI9s130_provenance.
- NP1478.RA1bY5wwsHzo8wJacRUIv0kW3IjUGc-Xzc9c0Dcmn4IN4130_assertion description "[Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1478.RA1bY5wwsHzo8wJacRUIv0kW3IjUGc-Xzc9c0Dcmn4IN4130_provenance.
- NP1479.RAxoeit2nFWFwW7NOmBmmdwHWpKVx1pg1qi7z0Jj9-q1U130_assertion description "[Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1479.RAxoeit2nFWFwW7NOmBmmdwHWpKVx1pg1qi7z0Jj9-q1U130_provenance.
- NP1480.RA9UD0lRiA3caW47ndujs8z_8vBlyBWjp2n3OD9kWaHPg130_assertion description "[Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1480.RA9UD0lRiA3caW47ndujs8z_8vBlyBWjp2n3OD9kWaHPg130_provenance.
- NP1485.RA_nEtnmrpAzhElbtJY9eqEjJue6vYIwlkhH3UgympF68130_assertion description "[Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1485.RA_nEtnmrpAzhElbtJY9eqEjJue6vYIwlkhH3UgympF68130_provenance.
- NP1486.RA89GQ0oDJTruV5bgai77Issb4VOrf-Wz4JSLTF-FQuQQ130_assertion description "[Hereditary coproporphyria is a dominantly inherited disorder of porphyrin metabolism caused by a partial deficiency of coproporphyrinogen oxidase, the sixth enzyme in the heme synthetic pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1486.RA89GQ0oDJTruV5bgai77Issb4VOrf-Wz4JSLTF-FQuQQ130_provenance.
- NP1487.RA-jxkqJSkw1sJ8aQocYaVVaaOkxBjF9Q66ETKAoa2B-k130_assertion description "[A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1487.RA-jxkqJSkw1sJ8aQocYaVVaaOkxBjF9Q66ETKAoa2B-k130_provenance.
- NP1489.RA0mQcbvu6hVqm3GPBB4FNBxUTBofoq2vmVQKyOiu7h50130_assertion description "[Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1489.RA0mQcbvu6hVqm3GPBB4FNBxUTBofoq2vmVQKyOiu7h50130_provenance.
- NP1491.RAx4poYC_JHsk45EjTyIZL2-GKyO_v-1gIlMmxLXA1vck130_assertion description "[Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1491.RAx4poYC_JHsk45EjTyIZL2-GKyO_v-1gIlMmxLXA1vck130_provenance.
- NP1497.RA9aAB45RMOUyV9O23mW_28ekSxAMLR0q7f8j6PVv-3uE130_assertion description "[Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1497.RA9aAB45RMOUyV9O23mW_28ekSxAMLR0q7f8j6PVv-3uE130_provenance.
- NP1498.RA9BkawTczC0gkoP8KmRU9nvj9tULQK1F6FkpBJaLKAiE130_assertion description "[Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1498.RA9BkawTczC0gkoP8KmRU9nvj9tULQK1F6FkpBJaLKAiE130_provenance.
- NP1503.RA9NRmGGCvjTOXaiG5pvnRyswu_lM3wHL3Z3oxvTUS4Eo130_assertion description "[Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1503.RA9NRmGGCvjTOXaiG5pvnRyswu_lM3wHL3Z3oxvTUS4Eo130_provenance.
- NP1511.RA4JV2tca0QrSTUlMq2Wb58FOzGYfGyaECepNOqGJMlz8130_assertion description "[Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1511.RA4JV2tca0QrSTUlMq2Wb58FOzGYfGyaECepNOqGJMlz8130_provenance.
- NP1517.RAwVxwDi_8ck3gClCJbqrqQILcGxYnIToXxplayfMByb0130_assertion description "[Genetic mapping and exome sequencing identify variants associated with five novel diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1517.RAwVxwDi_8ck3gClCJbqrqQILcGxYnIToXxplayfMByb0130_provenance.
- NP1521.RA9utRbO9AvB_j6TzxcTlg6NhGOMZNf2-Yd0eEdnBSxfE130_assertion description "[Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1521.RA9utRbO9AvB_j6TzxcTlg6NhGOMZNf2-Yd0eEdnBSxfE130_provenance.
- NP1527.RA7MiPtQ6q8iAp_Mi-5CuauohcT8vahAUGXmLCNeH1yMA130_assertion description "[Mutation screening of Pakistani families with congenital eye disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1527.RA7MiPtQ6q8iAp_Mi-5CuauohcT8vahAUGXmLCNeH1yMA130_provenance.
- NP1533.RA6AY8lO_nOrGcf1oi_-nuRvwWiD8_8tTVNZkmkO9XytM130_assertion description "[Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1533.RA6AY8lO_nOrGcf1oi_-nuRvwWiD8_8tTVNZkmkO9XytM130_provenance.
- NP1537.RA5jdQMlUIBWYV43S3QN522-j-eijFMwyW69M7jJK38h0130_assertion description "[CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1537.RA5jdQMlUIBWYV43S3QN522-j-eijFMwyW69M7jJK38h0130_provenance.
- NP1538.RAwn4ACBmEtB6euf1kG41b2F9LI_jAVSGn1oB2HVRD1qk130_assertion description "[Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1538.RAwn4ACBmEtB6euf1kG41b2F9LI_jAVSGn1oB2HVRD1qk130_provenance.
- NP1539.RA4DwpvMFncOg4t6LlXwSOP8yaMwjOdXbvISOWEoAT_rE130_assertion description "[Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1539.RA4DwpvMFncOg4t6LlXwSOP8yaMwjOdXbvISOWEoAT_rE130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion description "[We screened the entire CREB-binding protein gene (CBP) for mutations in patients with RSTS by using methods that find point mutations and larger rearrangements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1545.RA5WFpGEA6rqgPH-p2Aed6-a-zLWLf0qYVjoHyRpjiQ2M130_assertion description "[CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1545.RA5WFpGEA6rqgPH-p2Aed6-a-zLWLf0qYVjoHyRpjiQ2M130_provenance.
- NP1546.RA9UW3ViHJ_NYfcDYabAsREbWiMGB-dIONwUVeJi96WXU130_assertion description "[Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1546.RA9UW3ViHJ_NYfcDYabAsREbWiMGB-dIONwUVeJi96WXU130_provenance.
- NP1555.RAyWu0Is_l0_g6RNL39i_mrWBRWs5r6y8iNzH8QwIyWqI130_assertion description "[Alteration of protein-protein interactions of congenital cataract crystallin mutants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1555.RAyWu0Is_l0_g6RNL39i_mrWBRWs5r6y8iNzH8QwIyWqI130_provenance.
- NP1557.RA538hc20CzKKkyJNr-uFaHmnd3bPoWZWzm2oyaOX8aEY130_assertion description "[CRYBA4, a novel human cataract gene, is also involved in microphthalmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1557.RA538hc20CzKKkyJNr-uFaHmnd3bPoWZWzm2oyaOX8aEY130_provenance.
- NP1559.RA2oP4t3oYnbggt2nM50QtlcJnc1LefGM_QPb9Jre29MQ130_assertion description "[Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1559.RA2oP4t3oYnbggt2nM50QtlcJnc1LefGM_QPb9Jre29MQ130_provenance.
- NP1561.RA3WMkdYa7xUeM77xAZQxoJMaD7UjbHEU2bT64Ql3PCOo130_assertion description "[Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1561.RA3WMkdYa7xUeM77xAZQxoJMaD7UjbHEU2bT64Ql3PCOo130_provenance.
- NP1562.RA7oR8Y54aXQQw9Cd1KmzXUl-CRaMQL2UFTwv62CM5E2E130_assertion description "[A novel mutation impairing the tertiary structure and stability of C-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1562.RA7oR8Y54aXQQw9Cd1KmzXUl-CRaMQL2UFTwv62CM5E2E130_provenance.
- NP1564.RA6oY3lD4uYJntbAvErN-DsSZ-NAMMPFM6qceWorzLm00130_assertion description "[Crystal cataracts: human genetic cataract caused by protein crystallization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1564.RA6oY3lD4uYJntbAvErN-DsSZ-NAMMPFM6qceWorzLm00130_provenance.
- NP1568.RA63q4yvc4zUB45Kc8O_tezrWPgshYIepaaJijYsiUJGE130_assertion description "[A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1568.RA63q4yvc4zUB45Kc8O_tezrWPgshYIepaaJijYsiUJGE130_provenance.
- NP1572.RA2G2ai63oZ3Xqn2BDbbaDlrpNFHQoc6AA3oCFssRw0rE130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1572.RA2G2ai63oZ3Xqn2BDbbaDlrpNFHQoc6AA3oCFssRw0rE130_provenance.
- NP1575.RA97iBtsH_bDCJueAGLCVcHUfgvetRTDZu_jL5pfR_Omg130_assertion description "[Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1575.RA97iBtsH_bDCJueAGLCVcHUfgvetRTDZu_jL5pfR_Omg130_provenance.
- NP1583.RAy4VMJYufZWA3w6mT8tNxv5v9sqbzdfk3tE5qIygRt5g130_assertion description "[A common human skin tumour is caused by activating mutations in beta-catenin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1583.RAy4VMJYufZWA3w6mT8tNxv5v9sqbzdfk3tE5qIygRt5g130_provenance.
- NP1584.RA9NUTa6Eduh1ylNiGjD75jhBHdcRLN3cDd1psyacWErs130_assertion description "[APC mutations in sporadic medulloblastomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1584.RA9NUTa6Eduh1ylNiGjD75jhBHdcRLN3cDd1psyacWErs130_provenance.
- NP1591.RA14k_ZIv1GhXHi53FRHsVCFF2slXp01NzX0VDznu4Z2g130_assertion description "[Mutational spectrum of the CTNS gene in Italy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1591.RA14k_ZIv1GhXHi53FRHsVCFF2slXp01NzX0VDznu4Z2g130_provenance.
- NP1592.RA0gcc7-ZanAr6I9osmvM1DFVfnZh5rVEr10sppPirxC0130_assertion description "[Mutations in the causative gene, CTNS, which encodes cystinosin, the seven transmembrane domain lysosomal cystine transporter, have been identified in all forms confirming their allelic status.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1592.RA0gcc7-ZanAr6I9osmvM1DFVfnZh5rVEr10sppPirxC0130_provenance.
- NP1593.RA39ksQRv7lSpco4TmkXEfBEtAZMJeYSUHHjeUTzShLFQ130_assertion description "[Genetic basis of cystinosis in Turkish patients: a single-center experience.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1593.RA39ksQRv7lSpco4TmkXEfBEtAZMJeYSUHHjeUTzShLFQ130_provenance.
- NP1598.RA_2c2EtuR7AGD57ZjatSqhaHf1zIep1Jn_bhF0Yc0Nsw130_assertion description "[Two novel CTNS mutations in cystinosis patients in Thailand.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1598.RA_2c2EtuR7AGD57ZjatSqhaHf1zIep1Jn_bhF0Yc0Nsw130_provenance.
- NP1601.RAw_sunH0gW0xwIUKY_m0HxL7x2IFu0Wh-1qqgRv2Q16U130_assertion description "[Protective protein gene mutations in galactosialidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1601.RAw_sunH0gW0xwIUKY_m0HxL7x2IFu0Wh-1qqgRv2Q16U130_provenance.
- NP1602.RAyF8l8Y1uaBuDOiCKx_c-aYFbwqVLASzRAfYE2px3dpQ130_assertion description "[Mutations in the gene encoding lysosomal protective protein/cathepsin A (PPCA) are the cause of the lysosomal disorder galactosialidosis (GS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1602.RAyF8l8Y1uaBuDOiCKx_c-aYFbwqVLASzRAfYE2px3dpQ130_provenance.
- NP1606.RAyv2gmf-0q0V7M8ukKhglLhhl1hen7Zj17sVT-EJe3aw130_assertion description "[The role of cathepsin C in Papillon-Lefvre syndrome, prepubertal periodontitis, and aggressive periodontitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1606.RAyv2gmf-0q0V7M8ukKhglLhhl1hen7Zj17sVT-EJe3aw130_provenance.