Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP4075.RA3ZpuizlLF7p-cTPySMQuKU4XdSW6-fJsDIzoouYLG1E130_assertion description "[A role for MLH3 in hereditary nonpolyposis colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4075.RA3ZpuizlLF7p-cTPySMQuKU4XdSW6-fJsDIzoouYLG1E130_provenance.
• NP4076.RA9oYRhdwyhQKQudOJHYbtRT6OdJuYFKDFGCihacjIIaM130_assertion description "[Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4076.RA9oYRhdwyhQKQudOJHYbtRT6OdJuYFKDFGCihacjIIaM130_provenance.
• NP4080.RA5UfTLK3_cWlmVjOuwY6YOB7TXqCxuryOyfwh8g65pVM130_assertion description "[Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4080.RA5UfTLK3_cWlmVjOuwY6YOB7TXqCxuryOyfwh8g65pVM130_provenance.
• NP4089.RA7DcsLWB28l1rWdhxH880PvIWKXP0Nw0F7H1Qgse6y7A130_assertion description "[The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4089.RA7DcsLWB28l1rWdhxH880PvIWKXP0Nw0F7H1Qgse6y7A130_provenance.
• NP4093.RA6V5nm15ec_6XE5aGi_cH-IpDe2aMVGyBgG9uzhB2eC0130_assertion description "[Two mutations, both in the N-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS), were reported in patients with type II xanthinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4093.RA6V5nm15ec_6XE5aGi_cH-IpDe2aMVGyBgG9uzhB2eC0130_provenance.
• NP4095.RA1eZ1A52lFvJP1fLmG35Aig9gj8Kthr3O_-SZJEQYF5Q130_assertion description "[Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4095.RA1eZ1A52lFvJP1fLmG35Aig9gj8Kthr3O_-SZJEQYF5Q130_provenance.
• NP4097.RA3zIvFRg9JLs4si9uWOLLEk7H9VUvPWSPPPRBjN0EFF8130_assertion description "[Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4097.RA3zIvFRg9JLs4si9uWOLLEk7H9VUvPWSPPPRBjN0EFF8130_provenance.
• NP4100.RA8bGDH1Fqv1U5Fqxho89Gd9h8jPlw7QKfbUuukUO_y6s130_assertion description "[Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4100.RA8bGDH1Fqv1U5Fqxho89Gd9h8jPlw7QKfbUuukUO_y6s130_provenance.
• NP4104.RA87rivk0Iiv6-nK_VtmZQgnzf2MAHOwsdevfrH_o5EYA130_assertion description "[The combination of symptoms was suggestive of the recently characterized congenital disorder of glycosylation type Ib (CDG-Ib), which is caused by a deficiency of the enzyme phosphomannose isomerase (PMI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4104.RA87rivk0Iiv6-nK_VtmZQgnzf2MAHOwsdevfrH_o5EYA130_provenance.
• NP4112.RAxK_H6k3gtQJASDtfYalyd5Efh0RvPRcwsnSazTks-Qc130_assertion description "[MPL W515L mutation in pediatric essential thrombocythemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4112.RAxK_H6k3gtQJASDtfYalyd5Efh0RvPRcwsnSazTks-Qc130_provenance.
• NP4131.RA8bRXaCn5h47aoBAdT7-t0H9J5nR8uJgbV6CTaxmHtl0130_assertion description "[Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4131.RA8bRXaCn5h47aoBAdT7-t0H9J5nR8uJgbV6CTaxmHtl0130_provenance.
• NP4132.RA4H_bmlYL2plIquLlO7L0jnG43V7E7OWBsEPUq-snaiY130_assertion description "[Some mutations cause the severe neuropathies of infancy designated as Dejerine-Sottas disease, while others cause a 'classical' Charcot-Marie-Tooth (CMT) disease Type 1B (CMT1B) phenotype with normal early milestones but development of disability during the first two decades of life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4132.RA4H_bmlYL2plIquLlO7L0jnG43V7E7OWBsEPUq-snaiY130_provenance.
• NP4134.RA8jubJSdvMVKGsQz70BrrhBNjfWmvnyx_xRSXTO5gBYs130_assertion description "[Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4134.RA8jubJSdvMVKGsQz70BrrhBNjfWmvnyx_xRSXTO5gBYs130_provenance.
• NP4135.RAxeb-1DirTAO7s9VyLNECNOcTgxx48-KcKhtkOunSVIs130_assertion description "[Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4135.RAxeb-1DirTAO7s9VyLNECNOcTgxx48-KcKhtkOunSVIs130_provenance.
• NP4137.RA-BF-iH3eb3B1XF0wUowwemXJkokmcwuWMfI7ufymH6k130_assertion description "[The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4137.RA-BF-iH3eb3B1XF0wUowwemXJkokmcwuWMfI7ufymH6k130_provenance.
• NP4138.RAxQhScQ5CPwDaID-1Wf5j366NNy_HIfuhTExSYWXl93w130_assertion description "[Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4138.RAxQhScQ5CPwDaID-1Wf5j366NNy_HIfuhTExSYWXl93w130_provenance.
• NP4145.RA9gaGCBr6Qv371OBP21v_0-ejLgVsROMf1cFzeQtBc58130_assertion description "[Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4145.RA9gaGCBr6Qv371OBP21v_0-ejLgVsROMf1cFzeQtBc58130_provenance.
• NP4147.RA9jg76YyqaTVPawI_CTgORCAojxS-RtUSiHjuk4bJoTk130_assertion description "[A novel MPZ gene mutation in congenital neuropathy with hypomyelination.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4147.RA9jg76YyqaTVPawI_CTgORCAojxS-RtUSiHjuk4bJoTk130_provenance.
• NP4148.RA8slvKwMyv5xwwk4afOETjQ3Qc5TgDucPl9KIwt0XEdQ130_assertion description "[The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4148.RA8slvKwMyv5xwwk4afOETjQ3Qc5TgDucPl9KIwt0XEdQ130_provenance.
• NP4161.RA9DRGUj5F38QVtF8Snu_WiCiuwF17kqnI-6bnOeoQLS0130_assertion description "[A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4161.RA9DRGUj5F38QVtF8Snu_WiCiuwF17kqnI-6bnOeoQLS0130_provenance.
• NP4167.RA4JKRhojqgfEAxYTX1oC4C236An-ixsiJdP_uNydFLLs130_assertion description "[Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4167.RA4JKRhojqgfEAxYTX1oC4C236An-ixsiJdP_uNydFLLs130_provenance.
• NP4169.RA2cad4Z6n_8Di76Uzib00gOgIEe6HdlgFOkSKOBU7A8U130_assertion description "[Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4169.RA2cad4Z6n_8Di76Uzib00gOgIEe6HdlgFOkSKOBU7A8U130_provenance.
• NP4175.RAxaAm9Jng74TtBzNrRwbsJ9tB-IEsePRk0eli3MDOkRk130_assertion description "[Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4175.RAxaAm9Jng74TtBzNrRwbsJ9tB-IEsePRk0eli3MDOkRk130_provenance.
• NP4180.RA_1hSqaZ_klIvzIUCh7AJHKCGoEOVyttJrNLhZ-fWqtw130_assertion description "[Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4180.RA_1hSqaZ_klIvzIUCh7AJHKCGoEOVyttJrNLhZ-fWqtw130_provenance.
• NP4181.RA-ZuIU105a2e3nCRCAKcIQPjpGWVw3CkugC69dH7Gnes130_assertion description "[A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4181.RA-ZuIU105a2e3nCRCAKcIQPjpGWVw3CkugC69dH7Gnes130_provenance.
• NP4185.RAy6HCQMOzn3PLuv2UJh-aTAg_lETbfhZX84EgDMJUf88130_assertion description "[A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4185.RAy6HCQMOzn3PLuv2UJh-aTAg_lETbfhZX84EgDMJUf88130_provenance.
• NP4186.RAzhe782DsfSUvW2VM3O18xsdjQyuJNb6u-ZXLbaIBaTw130_assertion description "[Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4186.RAzhe782DsfSUvW2VM3O18xsdjQyuJNb6u-ZXLbaIBaTw130_provenance.
• NP4187.RA3hZ4SIQgR1Ij99PicJGGm25u9Np-XXXD5LE6URUio1U130_assertion description "[Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4187.RA3hZ4SIQgR1Ij99PicJGGm25u9Np-XXXD5LE6URUio1U130_provenance.
• NP4200.RA28NfKVJX6bVdsyrus-9ubbizKUfhRHD5Wgfc_vCZiTE130_assertion description "[A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4200.RA28NfKVJX6bVdsyrus-9ubbizKUfhRHD5Wgfc_vCZiTE130_provenance.
• NP4204.RA3Jp1Bkco8MD6xKdv3HKsU7EBuC53qLvSdYnWT2VEpjY130_assertion description "[Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4204.RA3Jp1Bkco8MD6xKdv3HKsU7EBuC53qLvSdYnWT2VEpjY130_provenance.
• NP4205.RAyxop8jbAOVuwb6MJKhUyWgi_EvhwM8A5KQGKQe4aCzQ130_assertion description "[Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4205.RAyxop8jbAOVuwb6MJKhUyWgi_EvhwM8A5KQGKQe4aCzQ130_provenance.
• NP4206.RA7lXXM5ReQu74kMEZHIR6G12jTc-09j1VB0TOy2ZC_L4130_assertion description "[A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4206.RA7lXXM5ReQu74kMEZHIR6G12jTc-09j1VB0TOy2ZC_L4130_provenance.
• NP4207.RA_oovkSDndTvl3m-8PW2_IHLBTH9L_AyOn0KursYdiVc130_assertion description "[Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4207.RA_oovkSDndTvl3m-8PW2_IHLBTH9L_AyOn0KursYdiVc130_provenance.
• NP4211.RA6SV8vQh0qqIvj-Ju7OjK3an3zMhNb21QM4TpIJvo_L4130_assertion description "[High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4211.RA6SV8vQh0qqIvj-Ju7OjK3an3zMhNb21QM4TpIJvo_L4130_provenance.
• NP4216.RA70ScGjQQ0iC6Qw533dlfQKRfPuT8WYZPjgox3VOsW3Q130_assertion description "[Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4216.RA70ScGjQQ0iC6Qw533dlfQKRfPuT8WYZPjgox3VOsW3Q130_provenance.
• NP4217.RA1vv45s-O0NFsevL-ZmDaYoeigODsg6qC-Rc1-Y_QISU130_assertion description "[Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4217.RA1vv45s-O0NFsevL-ZmDaYoeigODsg6qC-Rc1-Y_QISU130_provenance.
• NP4226.RAx_nfyVSkkIA5zDpfZ0sWx8MnpFzN-A273Dwv-zFvXNk130_assertion description "[Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4226.RAx_nfyVSkkIA5zDpfZ0sWx8MnpFzN-A273Dwv-zFvXNk130_provenance.
• NP4227.RA9aLbdHYLXKcopV7wPDXg7jVMuVh-ClRQk8YNUyn6aoA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4227.RA9aLbdHYLXKcopV7wPDXg7jVMuVh-ClRQk8YNUyn6aoA130_provenance.
• NP4231.RA3Rh3RNPXCg93XtUUAXywS90AiIdbIwzxLOi0r9AOjIo130_assertion description "[High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4231.RA3Rh3RNPXCg93XtUUAXywS90AiIdbIwzxLOi0r9AOjIo130_provenance.
• NP4232.RA1Ba1SnyRpaHl1iyYYx38GzMQfJ3MGGOWblIaHyyTSTY130_assertion description "[An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4232.RA1Ba1SnyRpaHl1iyYYx38GzMQfJ3MGGOWblIaHyyTSTY130_provenance.
• NP4238.RA5YzZuzrauw5ax9MWIYJYEDIGtYgKwxgtzx1FstNu7ss130_assertion description "[Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4238.RA5YzZuzrauw5ax9MWIYJYEDIGtYgKwxgtzx1FstNu7ss130_provenance.
• NP4239.RA9RCAJq4lcYMorOnEb1yxkKA7FOcGYlS1KMCPQZR7PV8130_assertion description "[Mutation analysis of the 8p22 candidate tumor suppressor gene ATIP/MTUS1 in hepatocellular carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4239.RA9RCAJq4lcYMorOnEb1yxkKA7FOcGYlS1KMCPQZR7PV8130_provenance.
• NP4242.RAzTaWHUXNrHFKqIw7zmtJi5_WXlgFoMOzClNM5-1Sjk4130_assertion description "[Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4242.RAzTaWHUXNrHFKqIw7zmtJi5_WXlgFoMOzClNM5-1Sjk4130_provenance.
• NP4245.RAzaX4y_6vvaN1gD9taeZv3oMs28gc1Q2LJsuYWq28cn4130_assertion description "[mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4245.RAzaX4y_6vvaN1gD9taeZv3oMs28gc1Q2LJsuYWq28cn4130_provenance.
• NP4259.RA41U2SAKxcgmh18CCFojAOXFOqoLaXHWJa5KI6xFWTiQ130_assertion description "[Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4259.RA41U2SAKxcgmh18CCFojAOXFOqoLaXHWJa5KI6xFWTiQ130_provenance.
• NP4265.RA5qui4S3JHA0a9FmJOTAspn2ge-JJQuESklmdNPsxPGg130_assertion description "[Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4265.RA5qui4S3JHA0a9FmJOTAspn2ge-JJQuESklmdNPsxPGg130_provenance.
• NP4269.RA5tI32n3PJuRcZ5E9GoFMaf0dy35oTrhMLpiMMlISjKk130_assertion description "[The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4269.RA5tI32n3PJuRcZ5E9GoFMaf0dy35oTrhMLpiMMlISjKk130_provenance.
• NP4272.RA5pqn7MSAWaEpD1X5A90n9c_ibEH7114AmR6bLWpAU58130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4272.RA5pqn7MSAWaEpD1X5A90n9c_ibEH7114AmR6bLWpAU58130_provenance.
• NP4282.RA18cgrHnyJrWz8WYctGjUzHElnVAUm4CBmvWgHhL71pY130_assertion description "[Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4282.RA18cgrHnyJrWz8WYctGjUzHElnVAUm4CBmvWgHhL71pY130_provenance.
• NP4283.RA55-cKMprOcbH36ozSLWUfYj0vXfcygQ_qoPzWhepM0c130_assertion description "[Mutation in myosin heavy chain 6 causes atrial septal defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4283.RA55-cKMprOcbH36ozSLWUfYj0vXfcygQ_qoPzWhepM0c130_provenance.
• NP4285.RAwHFWNMgJ3xsUy7yGXnYytIdjpN5p4jXF7j20MAIvzWA130_assertion description "[A rare variant in MYH6 is associated with high risk of sick sinus syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4285.RAwHFWNMgJ3xsUy7yGXnYytIdjpN5p4jXF7j20MAIvzWA130_provenance.
• NP4292.RAy3mgCSPvjrBp8oOhy10dfN05I994Zwiojzne38ccfDs130_assertion description "[Mutations profile in Chinese patients with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4292.RAy3mgCSPvjrBp8oOhy10dfN05I994Zwiojzne38ccfDs130_provenance.
• NP4294.RAzvttL5aqlVzt8rymkxGs737ch2XBJC6hhEh3m55Lp-A130_assertion description "[Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4294.RAzvttL5aqlVzt8rymkxGs737ch2XBJC6hhEh3m55Lp-A130_provenance.
• NP4298.RAzk33pZJ8n8hmR8K1kb-e7ZhO0kVTw4GOexg-FGXDGms130_assertion description "[Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4298.RAzk33pZJ8n8hmR8K1kb-e7ZhO0kVTw4GOexg-FGXDGms130_provenance.
• NP4299.RAw1WRl1JN8V6VwWGm_WVJawZ_ZMENXtimORNjK0Tv7GM130_assertion description "[Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4299.RAw1WRl1JN8V6VwWGm_WVJawZ_ZMENXtimORNjK0Tv7GM130_provenance.
• NP4302.RA06OHmfweuJ5Jz_u7DRMAFNKyFTHh97_IhpjgbKxders130_assertion description "[MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4302.RA06OHmfweuJ5Jz_u7DRMAFNKyFTHh97_IhpjgbKxders130_provenance.
• NP4305.RA0EoSaThy1PTFxqwSEc0kAP54chhPnDuKmwRPHIMTrMs130_assertion description "[Germline mosaicism for the c.2021G>A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4305.RA0EoSaThy1PTFxqwSEc0kAP54chhPnDuKmwRPHIMTrMs130_provenance.
• NP4313.RA8cwCSGP8-7KeN49A40EwGTfUX8dNmVd-1bUOst8uAjc130_assertion description "[MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4313.RA8cwCSGP8-7KeN49A40EwGTfUX8dNmVd-1bUOst8uAjc130_provenance.
• NP4315.RAwD7CixCBwswK93p3m3LOWHvg4al64RDrvCs0FfSEQUU130_assertion description "[Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4315.RAwD7CixCBwswK93p3m3LOWHvg4al64RDrvCs0FfSEQUU130_provenance.
• NP4321.RAy3IJ6ehUZVYUUJf3m1O_6q3jIXK3-FdA6rHpL-fTOeA130_assertion description "[Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4321.RAy3IJ6ehUZVYUUJf3m1O_6q3jIXK3-FdA6rHpL-fTOeA130_provenance.
• NP4323.RA6bUxIOcm3nZ1tNyTUGXCwNc8n-y1btYw4Vw_t3gwPTE130_assertion description "[Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4323.RA6bUxIOcm3nZ1tNyTUGXCwNc8n-y1btYw4Vw_t3gwPTE130_provenance.
• NP4332.RAwzwmw-zTr8v9u7P8RHQCWqX9V_XpRJW-Q0T_VU89kTY130_assertion description "[Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4332.RAwzwmw-zTr8v9u7P8RHQCWqX9V_XpRJW-Q0T_VU89kTY130_provenance.
• NP4335.RA6HTduSJKZo2pOLpXDtYpvMtCRL9KrJHM9F8XTv0jzHs130_assertion description "[Mutations in myosin light chain kinase cause familial aortic dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4335.RA6HTduSJKZo2pOLpXDtYpvMtCRL9KrJHM9F8XTv0jzHs130_provenance.
• NP4342.RA4ClufRguYEbQl6cBeXuFxluec5gg1-UgTrtu2mLqvCU130_assertion description "[Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4342.RA4ClufRguYEbQl6cBeXuFxluec5gg1-UgTrtu2mLqvCU130_provenance.
• NP4343.RA2eGwLAUpFAfqwRWXDmRO-eeyMlkSfkny8QOwbD3EiQM130_assertion description "[Mutations of MYO6 are associated with recessive deafness, DFNB37.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4343.RA2eGwLAUpFAfqwRWXDmRO-eeyMlkSfkny8QOwbD3EiQM130_provenance.
• NP4345.RAxWWZWkRFaJu6exUEVVcmyZxQ39NWZ3bZVmI4mO7lQws130_assertion description "[Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4345.RAxWWZWkRFaJu6exUEVVcmyZxQ39NWZ3bZVmI4mO7lQws130_provenance.
• NP4346.RA_p1sA8WIc1iwuqnC-kjLZOfMzXKLK7dzsQrIel0U3HM130_assertion description "[Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4346.RA_p1sA8WIc1iwuqnC-kjLZOfMzXKLK7dzsQrIel0U3HM130_provenance.
• NP4352.RAxSXg0Emo_3i9U7uHKw5OIFoB7m0Hh9hQYh6FBYQy7n0130_assertion description "[The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4352.RAxSXg0Emo_3i9U7uHKw5OIFoB7m0Hh9hQYh6FBYQy7n0130_provenance.
• NP4353.RA5gg3totm9WRW5caZ-25TNVKm9SQogMhPTmZT0nDEkjw130_assertion description "[Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4353.RA5gg3totm9WRW5caZ-25TNVKm9SQogMhPTmZT0nDEkjw130_provenance.
• NP4355.RAxbosijyFoEEfPwbkqYzxJn8RBgm35H8ygFxyabed8oE130_assertion description "[The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4355.RAxbosijyFoEEfPwbkqYzxJn8RBgm35H8ygFxyabed8oE130_provenance.
• NP4356.RA6UcLrbIpvz5EIq604vAib4FxXZzPvcsK0RmSWAMzNqA130_assertion description "[Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4356.RA6UcLrbIpvz5EIq604vAib4FxXZzPvcsK0RmSWAMzNqA130_provenance.
• NP4363.RA0UdDbXN_nfQ_4a5O0XWfXha639a2jlCfpAecfYSGw5k130_assertion description "[Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4363.RA0UdDbXN_nfQ_4a5O0XWfXha639a2jlCfpAecfYSGw5k130_provenance.
• NP4371.RA7PDXf2gVNWu-KuTm540hv4-DjIqbfEq1QXBay45_91s130_assertion description "[Myotilin is mutated in limb girdle muscular dystrophy 1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4371.RA7PDXf2gVNWu-KuTm540hv4-DjIqbfEq1QXBay45_91s130_provenance.
• NP4379.RA66Jl9qW4ZQ3yZsblcdb0bn-T-t-uqp2oCbe09PF1E3c130_assertion description "[The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4379.RA66Jl9qW4ZQ3yZsblcdb0bn-T-t-uqp2oCbe09PF1E3c130_provenance.
• NP4387.RA5tjP-M6HacM044vy5H_kXic6WFXf2VU6oBeIGuz1ALQ130_assertion description "[Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo B disease) is an autosomal recessive storage disorder caused by deficiency of the lysosomal enzyme a-N-acetylglucosaminidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4387.RA5tjP-M6HacM044vy5H_kXic6WFXf2VU6oBeIGuz1ALQ130_provenance.
• NP4388.RA54FDtQDJtSF7Y7LLnC5GhE8GpA35KpguIiJQlXcB4E4130_assertion description "[Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4388.RA54FDtQDJtSF7Y7LLnC5GhE8GpA35KpguIiJQlXcB4E4130_provenance.
• NP4392.RA2YThoGDwvDP4kzj4cX7b6a5gPZXskgvl5GNW7wQ1xmk130_assertion description "[Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4392.RA2YThoGDwvDP4kzj4cX7b6a5gPZXskgvl5GNW7wQ1xmk130_provenance.
• NP4396.RA2teElKKSVUNznKHpMK6WBxc1NPDtDhwxr6K7KWqJnLw130_assertion description "[Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4396.RA2teElKKSVUNznKHpMK6WBxc1NPDtDhwxr6K7KWqJnLw130_provenance.
• NP4397.RA_SHJ2lf-Fwk_LwQ-bnhcpAkE8qDc4_VlaMAHKM6jzbQ130_assertion description "[Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4397.RA_SHJ2lf-Fwk_LwQ-bnhcpAkE8qDc4_VlaMAHKM6jzbQ130_provenance.
• NP4399.RAwByVzQdy3edgEt20HAggLfBBov8Y0Yk6KOGa5iz6on8130_assertion description "[Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4399.RAwByVzQdy3edgEt20HAggLfBBov8Y0Yk6KOGa5iz6on8130_provenance.
• NP4401.RAy3jdnNrGhRJieyR_ro0AZNdCsHhVQsxm2Tbe_prnKU4130_assertion description "[Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4401.RAy3jdnNrGhRJieyR_ro0AZNdCsHhVQsxm2Tbe_prnKU4130_provenance.
• NP4410.RA-bvOAdmGg1TMTmQ72pL9KRV8-btSfxmjYLZRsOW1xkE130_assertion description "[A novel missense Norrie disease mutation associated with a severe ocular phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4410.RA-bvOAdmGg1TMTmQ72pL9KRV8-btSfxmjYLZRsOW1xkE130_provenance.
• NP4416.RA7oTyYFirf_szFrtr4rtFspyLwBzA5lvXl9G0lqR6F4E130_assertion description "[A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4416.RA7oTyYFirf_szFrtr4rtFspyLwBzA5lvXl9G0lqR6F4E130_provenance.
• NP4417.RAyF_Xv04qqhPCzw-olyikmAQFtILeqG0P5L1WzAfuNG8130_assertion description "[Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4417.RAyF_Xv04qqhPCzw-olyikmAQFtILeqG0P5L1WzAfuNG8130_provenance.
• NP4419.RAwQ2WpAnFgh3ipTFqY7RU6GLEGiWlKzwgTKYotbe_GnA130_assertion description "[X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4419.RAwQ2WpAnFgh3ipTFqY7RU6GLEGiWlKzwgTKYotbe_GnA130_provenance.
• NP4426.RA-2gCbzPMeYIF8-jBc21lVWancy7Je2JLl7r3WJ6nJNQ130_assertion description "[Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4426.RA-2gCbzPMeYIF8-jBc21lVWancy7Je2JLl7r3WJ6nJNQ130_provenance.
• NP4428.RA9xUoWM_Xdt8V3yc7EprKkKpPF7EfZh8yQTiqRB4QD_E130_assertion description "[Human mitochondrial complex I in health and disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4428.RA9xUoWM_Xdt8V3yc7EprKkKpPF7EfZh8yQTiqRB4QD_E130_provenance.
• NP4432.RA7hkwSZxkmd1sqC8jUMbVtkuXLnVFwhxAzuVlLwUJx2I130_assertion description "[Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4432.RA7hkwSZxkmd1sqC8jUMbVtkuXLnVFwhxAzuVlLwUJx2I130_provenance.
• NP4442.RA-5jYngF5sQYPUEFgoWq2Tv3iFy1oflUzrTY5O2cDm2Y130_assertion description "[Molecular and structural studies of Japanese patients with sialidosis type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4442.RA-5jYngF5sQYPUEFgoWq2Tv3iFy1oflUzrTY5O2cDm2Y130_provenance.
• NP4444.RA0lg5v-X-diFH_4rRsgiKFABIL7jCZ7s1ieqQRS4L17w130_assertion description "[Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4444.RA0lg5v-X-diFH_4rRsgiKFABIL7jCZ7s1ieqQRS4L17w130_provenance.
• NP4446.RA0WZV1eFYRVJeQb1fMjBJOqcYqvzauki1yk2jfUSY_sU130_assertion description "[Mutant neurogenin-3 in congenital malabsorptive diarrhea.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4446.RA0WZV1eFYRVJeQb1fMjBJOqcYqvzauki1yk2jfUSY_sU130_provenance.
• NP4448.RA1etZ7dKNM3cGBIeBD116L3WqxrIHS3f0ay1K5NB_MAw130_assertion description "[Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4448.RA1etZ7dKNM3cGBIeBD116L3WqxrIHS3f0ay1K5NB_MAw130_provenance.
• NP4453.RAwUfumOFYzi-XOT1p3hQzv9qSKBlGPkx0JWOkvCjO3h4130_assertion description "[Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4453.RAwUfumOFYzi-XOT1p3hQzv9qSKBlGPkx0JWOkvCjO3h4130_provenance.
• NP4457.RA5HKyBkAJ4HVurBApjoN1URQ561uWqyz0RDKXGDEj1-E130_assertion description "[Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4457.RA5HKyBkAJ4HVurBApjoN1URQ561uWqyz0RDKXGDEj1-E130_provenance.
• NP4459.RA6vqYNH9qyDi8ddo9A3ItZIp_tUFq79_IPcNEI-fI91I130_assertion description "[NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4459.RA6vqYNH9qyDi8ddo9A3ItZIp_tUFq79_IPcNEI-fI91I130_provenance.
• NP4460.RA19wDpZVB-IIdYiK-3SVkj16xbCZ1VETBnbDzyVebgsM130_assertion description "[Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4460.RA19wDpZVB-IIdYiK-3SVkj16xbCZ1VETBnbDzyVebgsM130_provenance.
• NP4464.RA1rIqDFISjsBx7PB-bv6qDpB8pcJi7XzkyKeDYOJxta4130_assertion description "[DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4464.RA1rIqDFISjsBx7PB-bv6qDpB8pcJi7XzkyKeDYOJxta4130_provenance.
• NP4473.RAzmxJBi91XMsNOVN-YyNBsA8bdQQoQeUCM44zGmZqZbE130_assertion description "[It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4473.RAzmxJBi91XMsNOVN-YyNBsA8bdQQoQeUCM44zGmZqZbE130_provenance.
• NP4478.RA4hiO1wzMFGZulrkE4aO_W8dUwrwfYFd_UnxtSl4ileM130_assertion description "[The identified novel mutations include 4 missense mutations (K140N, L310W, N148Y, and E210 K) and a deletion of exon 3 for EPM2A, and 4 missense mutations (S22R, L279P, L279P, and L126P) and a single base-pair insertional mutation (612insT) for NHLRC1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4478.RA4hiO1wzMFGZulrkE4aO_W8dUwrwfYFd_UnxtSl4ileM130_provenance.
• NP4482.RA-YnOUomA0GhsrHH7A-6BeMobm4jGPdrMfRTxjgHMvIU130_assertion description "[NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4482.RA-YnOUomA0GhsrHH7A-6BeMobm4jGPdrMfRTxjgHMvIU130_provenance.

• first
• previous
• next