Nanopublications LDF server

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

• NP4843.RA5GwPMdN0CA-n5Bpgrt8-ewl0TrQ9ZLnYPib8-koNZfw130_assertion description "[A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4843.RA5GwPMdN0CA-n5Bpgrt8-ewl0TrQ9ZLnYPib8-koNZfw130_provenance.
• NP4851.RA1kCfSJeUAyYiEzmzJG3ZOJcIClak9yiRtIwjpRVaz4Y130_assertion description "[Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4851.RA1kCfSJeUAyYiEzmzJG3ZOJcIClak9yiRtIwjpRVaz4Y130_provenance.
• NP4853.RAyX-cSJQ-OwFAOnkYNKClo4B6xYJSqR5umIzbC_nmFCA130_assertion description "[An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4853.RAyX-cSJQ-OwFAOnkYNKClo4B6xYJSqR5umIzbC_nmFCA130_provenance.
• NP4855.RA2z8vSO4lc_qc5YFWwQc2JN2k9F5SON-5TTo_vC2wqPU130_assertion description "[Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4855.RA2z8vSO4lc_qc5YFWwQc2JN2k9F5SON-5TTo_vC2wqPU130_provenance.
• NP4868.RA5t_dqzpi5BG8GJYx6TEIi9nu1Zl2iCV_l4KTCzuoHD4130_assertion description "[Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4868.RA5t_dqzpi5BG8GJYx6TEIi9nu1Zl2iCV_l4KTCzuoHD4130_provenance.
• NP4869.RAygkEy7ZSbB_KbBVSGWYWX6WNuOKv2tz2N8IkL5EC290130_assertion description "[One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4869.RAygkEy7ZSbB_KbBVSGWYWX6WNuOKv2tz2N8IkL5EC290130_provenance.
• NP4870.RAxwJMOjgUxtNC5eky-iUBefQthk-S74iEJLMhmadt-PE130_assertion description "[Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4870.RAxwJMOjgUxtNC5eky-iUBefQthk-S74iEJLMhmadt-PE130_provenance.
• NP4880.RA-rf5qSeWjx32sbf-Y3hdDzsHV5BfUS7obu2Q3R9u8cU130_assertion description "[In contrast, PEX1 proteins derived from ZS patients, including proteins with a mutation at L664P or the deletion of residues 634-690, were stably present at both temperatures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4880.RA-rf5qSeWjx32sbf-Y3hdDzsHV5BfUS7obu2Q3R9u8cU130_provenance.
• NP4883.RA1yfX_2fNmnIu3BY8kJSQ0gm9rEKkGfomN7TxJoH3PCs130_assertion description "[Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4883.RA1yfX_2fNmnIu3BY8kJSQ0gm9rEKkGfomN7TxJoH3PCs130_provenance.
• NP4885.RAzVQMwhrv2wbGPtW7wHATzmhIMY-N-uloybpjrOdMj7I130_assertion description "[Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4885.RAzVQMwhrv2wbGPtW7wHATzmhIMY-N-uloybpjrOdMj7I130_provenance.
• NP4892.RA5EFcCv-DUPWH2louzbRRa0t6DwtQB8EB2BHPVh8BX3c130_assertion description "[Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4892.RA5EFcCv-DUPWH2louzbRRa0t6DwtQB8EB2BHPVh8BX3c130_provenance.
• NP4893.RA6LO4N2iXIJuPORQMTJ0ix48iDfZmq8z7ZT5iSJxzV6c130_assertion description "[A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4893.RA6LO4N2iXIJuPORQMTJ0ix48iDfZmq8z7ZT5iSJxzV6c130_provenance.
• NP4894.RAzvDvT0HSB-8UCEHPFWKf5AsUX6vEqWd-RYmI_GP6COE130_assertion description "[Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Crteil and PGK Amiens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4894.RAzvDvT0HSB-8UCEHPFWKf5AsUX6vEqWd-RYmI_GP6COE130_provenance.
• NP4900.RA69YL7Iq61aRuK8g78SICpzXkaH5EhGoK5mHNVr0b6DY130_assertion description "[Muscle glycogenosis due to phosphoglucomutase 1 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4900.RA69YL7Iq61aRuK8g78SICpzXkaH5EhGoK5mHNVr0b6DY130_provenance.
• NP4903.RA-bovfTsxurTpz2X_nV2UxozwRIcqYJX4-QLq78nw2uc130_assertion description "[Mutational analysis of PHEX gene in X-linked hypophosphatemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4903.RA-bovfTsxurTpz2X_nV2UxozwRIcqYJX4-QLq78nw2uc130_provenance.
• NP4904.RA5suRsR1XpqxhxGj8iqBcDDWHJgnSEORkpL4YiPp0z-4130_assertion description "[Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4904.RA5suRsR1XpqxhxGj8iqBcDDWHJgnSEORkpL4YiPp0z-4130_provenance.
• NP4906.RA2gsIMUXqJhhFy2B-0Un7aD8sc2MPigJtD8PmrP3em9M130_assertion description "[Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4906.RA2gsIMUXqJhhFy2B-0Un7aD8sc2MPigJtD8PmrP3em9M130_provenance.
• NP4910.RA2vktEiu1EeoV8K9Nw457D2xvS5-l7gA5vUkcekcJmec130_assertion description "[Mutations in PHF6 are associated with Brjeson-Forssman-Lehmann syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4910.RA2vktEiu1EeoV8K9Nw457D2xvS5-l7gA5vUkcekcJmec130_provenance.
• NP4912.RA801wKMaYqwPMDBKOhRb4AJG1uGYc_LiusgXBvo9eELk130_assertion description "[Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4912.RA801wKMaYqwPMDBKOhRb4AJG1uGYc_LiusgXBvo9eELk130_provenance.
• NP4913.RA-5NMf-J3ABAFR6JpjKbsq8w51IDz7C9cjz6B3pjH56k130_assertion description "[Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4913.RA-5NMf-J3ABAFR6JpjKbsq8w51IDz7C9cjz6B3pjH56k130_provenance.
• NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_assertion description "[Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4919.RA630OhtfCJyi_4h_GxdV5Pv_sXFSnj4fe9mYI3q1K_ds130_provenance.
• NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_assertion description "[Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4922.RA_8bEFxC0DfBF90CY8PCVsLs7RgAv5RhgXrR3coxMP6U130_provenance.
• NP4927.RA9yMjZ5QGfPyGr_UdL1gT-SFDcEidfvLIrInNg1emvXI130_assertion description "[Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4927.RA9yMjZ5QGfPyGr_UdL1gT-SFDcEidfvLIrInNg1emvXI130_provenance.
• NP4928.RA09WUNB9FKUV4DmPKubrJL44hig3BoHgC2WsDvmhXWoU130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4928.RA09WUNB9FKUV4DmPKubrJL44hig3BoHgC2WsDvmhXWoU130_provenance.
• NP4935.RA31l4jYFZxNar_pIaTyKr53qvn8y3-NfY992LsDEuIAE130_assertion description "[Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4935.RA31l4jYFZxNar_pIaTyKr53qvn8y3-NfY992LsDEuIAE130_provenance.
• NP4938.RAx69R6FVr4ZtDosc4Ps6DqGnDoAxvYZVDYt7VmSXRnGM130_assertion description "[Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4938.RAx69R6FVr4ZtDosc4Ps6DqGnDoAxvYZVDYt7VmSXRnGM130_provenance.
• NP4939.RA45y7XY4pO2bzS1vxZLPbm5gbhRy4HhnCC8j4pg_0AQ8130_assertion description "[Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4939.RA45y7XY4pO2bzS1vxZLPbm5gbhRy4HhnCC8j4pg_0AQ8130_provenance.
• NP4946.RAx00fkrE0ie8SkT0pnAWuBJVkYq90k3r5_xQPXH27-CQ130_assertion description "[Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4946.RAx00fkrE0ie8SkT0pnAWuBJVkYq90k3r5_xQPXH27-CQ130_provenance.
• NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_assertion description "[Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4952.RA1M8LWX1LZpcWgs_pZTifIan-rVhUceEo2OJDKfrF9uc130_provenance.
• NP4953.RAwmHDHPzfhDsgIZZ3JPr0SkogAoEvFA0FhGVLt_1V0xM130_assertion description "[Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4953.RAwmHDHPzfhDsgIZZ3JPr0SkogAoEvFA0FhGVLt_1V0xM130_provenance.
• NP4956.RAxJ0FFhELyAEC-EjeOyz53xLMAE3s4yqVYU6OQzTGP2A130_assertion description "[Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4956.RAxJ0FFhELyAEC-EjeOyz53xLMAE3s4yqVYU6OQzTGP2A130_provenance.
• NP4958.RA7ZLr8D5ZaN6mCjeC_ZdKU2img9djZTnuK9LLM3yrhzY130_assertion description "[Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4958.RA7ZLr8D5ZaN6mCjeC_ZdKU2img9djZTnuK9LLM3yrhzY130_provenance.
• NP4959.RA1beXU-8AGygMc3EwZdSyGeRavry1GlIIfbQcwzrTIoo130_assertion description "[Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4959.RA1beXU-8AGygMc3EwZdSyGeRavry1GlIIfbQcwzrTIoo130_provenance.
• NP4971.RA8QdxeBhtKWX4nw4u4zVeTpDVnaKx8fNzJynCH1E7Zkc130_assertion description "[Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4971.RA8QdxeBhtKWX4nw4u4zVeTpDVnaKx8fNzJynCH1E7Zkc130_provenance.
• NP4973.RA_iQml38MI8m1e5xVScy42CjYWHv95XbrB91tjd-IZUE130_assertion description "[Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4973.RA_iQml38MI8m1e5xVScy42CjYWHv95XbrB91tjd-IZUE130_provenance.
• NP4975.RAytrduQ1_CHKvWQ4BbqiMdHZUrc23syHK8rcMVH7DJMQ130_assertion description "[Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4975.RAytrduQ1_CHKvWQ4BbqiMdHZUrc23syHK8rcMVH7DJMQ130_provenance.
• NP4978.RA9lLQoJo2JLV64QmCAP-OQSDTbarPf7B1G6tFqNYRNDg130_assertion description "[Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4978.RA9lLQoJo2JLV64QmCAP-OQSDTbarPf7B1G6tFqNYRNDg130_provenance.
• NP4983.RAzbpOlTvvyjspXqvrqkTZKKUMCFlvMgIeTmyQCweVEJY130_assertion description "[Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and severe form of polycystic disease affecting the kidneys and biliary tract with an estimated incidence of 1 in 20,000 live births.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4983.RAzbpOlTvvyjspXqvrqkTZKKUMCFlvMgIeTmyQCweVEJY130_provenance.
• NP4984.RA7zqFS9kciR8lZvJbJMYlHs1OCwopmTcFMz1nQ1cdSG4130_assertion description "[The vast majority of patients with ARPKD carry mutations in the recently characterized PKHD1 gene on chromosome 6p12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4984.RA7zqFS9kciR8lZvJbJMYlHs1OCwopmTcFMz1nQ1cdSG4130_provenance.
• NP4986.RA6d7rWcaFrEgmLRXxzfLxxL96BJRx295rOK6BC142Rvo130_assertion description "[Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4986.RA6d7rWcaFrEgmLRXxzfLxxL96BJRx295rOK6BC142Rvo130_provenance.
• NP4991.RAzeio-lISNbKhNZjjSj2RXl-ON4iWgMDqZPrKy-OjQFA130_assertion description "[Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4991.RAzeio-lISNbKhNZjjSj2RXl-ON4iWgMDqZPrKy-OjQFA130_provenance.
• NP4995.RA_71ofX1QAMuPTn4qPYBxF_c0kcmDfLXvWdewS2TiLZ8130_assertion description "[Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4995.RA_71ofX1QAMuPTn4qPYBxF_c0kcmDfLXvWdewS2TiLZ8130_provenance.
• NP4997.RAxdZ5chuq7ybLwjFFDSNEKanzwHvEx5G39jDO53nouUE130_assertion description "[Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4997.RAxdZ5chuq7ybLwjFFDSNEKanzwHvEx5G39jDO53nouUE130_provenance.
• NP5001.RA7piybSFgEupw47ccQqJZJEWAzHfRm1Ch9GU9CtBXu6s130_assertion description "[We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5001.RA7piybSFgEupw47ccQqJZJEWAzHfRm1Ch9GU9CtBXu6s130_provenance.
• NP5004.RA2ZB6vKVvBF-1L6nPGPOPscxJY-J0Oc7SmSVQKcUssRI130_assertion description "[A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5004.RA2ZB6vKVvBF-1L6nPGPOPscxJY-J0Oc7SmSVQKcUssRI130_provenance.
• NP5005.RA3iHISHMqpTNOX4OB3Wt8tG6AcO56-ey0XVmZZwBJnMQ130_assertion description "[Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5005.RA3iHISHMqpTNOX4OB3Wt8tG6AcO56-ey0XVmZZwBJnMQ130_provenance.
• NP5007.RA04q68-DghVsKeejJlQZqMtIBWm0SiCWrkXm11RLw-v8130_assertion description "[Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5007.RA04q68-DghVsKeejJlQZqMtIBWm0SiCWrkXm11RLw-v8130_provenance.
• NP5010.RAyG6m64rj3cTXma9kRx1d0lMOW0bpbltjUbAhr_MnsxA130_assertion description "[Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5010.RAyG6m64rj3cTXma9kRx1d0lMOW0bpbltjUbAhr_MnsxA130_provenance.
• NP5011.RA_rYdjqZTWA4I6vljy1Zr6FFp3JsYZqMCBZANESaZA_M130_assertion description "[Congenital plasminogen deficiency caused by a Ser572 to Pro mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5011.RA_rYdjqZTWA4I6vljy1Zr6FFp3JsYZqMCBZANESaZA_M130_provenance.
• NP5017.RA7igg_eewn26hyoDB19KubSJznbPRgLtGg88qg0EWpbM130_assertion description "[Ehlers-Danlos syndrome type VI (EDS VI) is a rare autosomal recessively inherited disease of connective tissue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5017.RA7igg_eewn26hyoDB19KubSJznbPRgLtGg88qg0EWpbM130_provenance.
• NP5021.RAyfSsoI12XDqydrOTsiqJMP3M6NazfWVo1QyzU-_BiF0130_assertion description "[Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5021.RAyfSsoI12XDqydrOTsiqJMP3M6NazfWVo1QyzU-_BiF0130_provenance.
• NP5022.RA1bynL-dfHcp5MUeMVB9WQH9QQK-fufdWFhnaNlW90TY130_assertion description "[Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5022.RA1bynL-dfHcp5MUeMVB9WQH9QQK-fufdWFhnaNlW90TY130_provenance.
• NP5028.RAynA2ETnUgp_EHPiIxlRnuMJxKb8r4Dbup0arrfZiT4o130_assertion description "[Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5028.RAynA2ETnUgp_EHPiIxlRnuMJxKb8r4Dbup0arrfZiT4o130_provenance.
• NP5035.RA8Lhfm19-XrK1V8zK_BWcjP6V7AMjwRlM6c8DG5sP66A130_assertion description "[The rumpshaker mutation in spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5035.RA8Lhfm19-XrK1V8zK_BWcjP6V7AMjwRlM6c8DG5sP66A130_provenance.
• NP5036.RA9HwArfa-VdC2bYIWineOzv__LnElqCXsilWMOc81aNE130_assertion description "[A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5036.RA9HwArfa-VdC2bYIWineOzv__LnElqCXsilWMOc81aNE130_provenance.
• NP5040.RA5OIo_qh4pOKlbkcVRJ_kRe5HJm1M9MZE_B2Id8Y_1-s130_assertion description "[Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5040.RA5OIo_qh4pOKlbkcVRJ_kRe5HJm1M9MZE_B2Id8Y_1-s130_provenance.
• NP5042.RA93-S0oDAc3qdDU_P3QgFAh7iQWt20a8QilArXcNIk-M130_assertion description "[Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5042.RA93-S0oDAc3qdDU_P3QgFAh7iQWt20a8QilArXcNIk-M130_provenance.
• NP5047.RA2V5oaHuyT17YMjrxLJCIrR0GxC_N3fvNNiN9DLEeAdM130_assertion description "[Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5047.RA2V5oaHuyT17YMjrxLJCIrR0GxC_N3fvNNiN9DLEeAdM130_provenance.
• NP5052.RAz7f_b8ZMEEErNANp-iHjRCt4Rn5xLP0PdV3KZuVGcSo130_assertion description "[Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5052.RAz7f_b8ZMEEErNANp-iHjRCt4Rn5xLP0PdV3KZuVGcSo130_provenance.
• NP5057.RA778RzQfgFEIupEYFX9OTXgmeX_E7pZ7HswOk4wyJ4Dw130_assertion description "[Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible `hot spot` on Ser72.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5057.RA778RzQfgFEIupEYFX9OTXgmeX_E7pZ7HswOk4wyJ4Dw130_provenance.
• NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_assertion description "[Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), CMT type 2 (CMT2) and Djrine-Sottas neuropathy (DS) patients, and only in the coding region of PMP22 in HNPP families lacking a deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_provenance.
• NP5063.RAwVXxdou06lXcmPht-wjoIaY_5QZzS_sKnK1a_4oSymE130_assertion description "[A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5063.RAwVXxdou06lXcmPht-wjoIaY_5QZzS_sKnK1a_4oSymE130_provenance.
• NP5065.RA-T7Bn8gSi147tTXnGEyStiXODZTKvb3uQyinyjg5imA130_assertion description "[The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5065.RA-T7Bn8gSi147tTXnGEyStiXODZTKvb3uQyinyjg5imA130_provenance.
• NP5066.RA7lMLhXqQ_tTThOzDs4Pl5VQ0y0jFhJRm34YLewiAa3E130_assertion description "[Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5066.RA7lMLhXqQ_tTThOzDs4Pl5VQ0y0jFhJRm34YLewiAa3E130_provenance.
• NP5069.RA_yCtU8TfZIQlEEXL5f52XIX5iVsFx4dlpzCm1LRmgyw130_assertion description "[Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5069.RA_yCtU8TfZIQlEEXL5f52XIX5iVsFx4dlpzCm1LRmgyw130_provenance.
• NP5074.RA8LCZq2RhGQGRkK6ehaG0nKe9nLQkJCeMCrvjxqmnMDc130_assertion description "[A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5074.RA8LCZq2RhGQGRkK6ehaG0nKe9nLQkJCeMCrvjxqmnMDc130_provenance.
• NP5080.RA0tONDUp4Px9XOY-uxppQIAQIBrjQOvSZelZhlJIpJIE130_assertion description "[Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5080.RA0tONDUp4Px9XOY-uxppQIAQIBrjQOvSZelZhlJIpJIE130_provenance.
• NP5085.RAyjMq-pamDD-XO7RKuh245nASzR-sUyH1OjY2J2_Thuc130_assertion description "[Purine nucleoside phosphorylase (PNP) deficiency is an inherited autosomal recessive disorder resulting in severe combined immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5085.RAyjMq-pamDD-XO7RKuh245nASzR-sUyH1OjY2J2_Thuc130_provenance.
• NP5086.RA-s79Udl2NMMfsDp1-NnbqhJUlQ7sGsXIkX-eDRo7lko130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5086.RA-s79Udl2NMMfsDp1-NnbqhJUlQ7sGsXIkX-eDRo7lko130_provenance.
• NP5093.RAzWk2LF-YEed-2oDe23kIsCQAUYwGrgLGwkM1zzvw_rE130_assertion description "[SANDO: two novel mutations in POLG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5093.RAzWk2LF-YEed-2oDe23kIsCQAUYwGrgLGwkM1zzvw_rE130_provenance.
• NP5095.RA0mwb6NRbFV6Kotuq_L0UsYx51L6WlvBKXRUfCCNqs-o130_assertion description "[Early-onset familial parkinsonism due to POLG mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5095.RA0mwb6NRbFV6Kotuq_L0UsYx51L6WlvBKXRUfCCNqs-o130_provenance.
• NP5100.RA1bgMoPmmkxxBb72jnVFqzrtHF27A3gtrKm2pSQVevos130_assertion description "[Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5100.RA1bgMoPmmkxxBb72jnVFqzrtHF27A3gtrKm2pSQVevos130_provenance.
• NP5115.RA1WX2_n4ZC-l9Jy09WCRChCOTSo0Il24okeqAb_yO7_0130_assertion description "[Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5115.RA1WX2_n4ZC-l9Jy09WCRChCOTSo0Il24okeqAb_yO7_0130_provenance.
• NP5117.RA0b300TEa_SFr8TzHiP6mPuH5JDG811XpbNCZlCrFS5I130_assertion description "[Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5117.RA0b300TEa_SFr8TzHiP6mPuH5JDG811XpbNCZlCrFS5I130_provenance.
• NP5120.RA9FlwAAB39egog9KRKFZoeQZrXP5NHrgaFCJtTJvGxqM130_assertion description "[Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5120.RA9FlwAAB39egog9KRKFZoeQZrXP5NHrgaFCJtTJvGxqM130_provenance.
• NP5127.RA4zRG-qAnEXtcMh26j6qo0-bbGS_Y7Xo7SeLezH6S7h4130_assertion description "[Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5127.RA4zRG-qAnEXtcMh26j6qo0-bbGS_Y7Xo7SeLezH6S7h4130_provenance.
• NP5132.RA-7bc4kKp0gnkc-fB4sQ2QI3LgcmgXtasLOq1PObCgNU130_assertion description "[POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5132.RA-7bc4kKp0gnkc-fB4sQ2QI3LgcmgXtasLOq1PObCgNU130_provenance.
• NP5133.RA1PHdOa8T4fUrUYV4xMQ3QzRLuBji2h-t6Iy_cYf9l4I130_assertion description "[POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5133.RA1PHdOa8T4fUrUYV4xMQ3QzRLuBji2h-t6Iy_cYf9l4I130_provenance.
• NP5134.RA9qYsWDkNGsE9mHDkEFV1c1kRqDAKmDsCyslLfaoGnCE130_assertion description "[POMGnT1 gene alterations in a family with neurological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5134.RA9qYsWDkNGsE9mHDkEFV1c1kRqDAKmDsCyslLfaoGnCE130_provenance.
• NP5136.RA-d_8aCUUgEATVzU66gizwk-iJCW4qgGmMgVs_DdH_og130_assertion description "[Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5136.RA-d_8aCUUgEATVzU66gizwk-iJCW4qgGmMgVs_DdH_og130_provenance.
• NP5140.RA0YPlqqm_xat7eWqvZbwRlJnuUI16P1PUkoL4lwV8Yfw130_assertion description "[Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5140.RA0YPlqqm_xat7eWqvZbwRlJnuUI16P1PUkoL4lwV8Yfw130_provenance.
• NP5142.RA6Lff3oBzOlDaJWDzL4EUGsMJ6USFQ8ByqlexCCYcMZo130_assertion description "[Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5142.RA6Lff3oBzOlDaJWDzL4EUGsMJ6USFQ8ByqlexCCYcMZo130_provenance.
• NP5145.RA5M3UoGsMd4awnOp9OZ7WNpxgmmsOy69hynrxCyDRQBM130_assertion description "[An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5145.RA5M3UoGsMd4awnOp9OZ7WNpxgmmsOy69hynrxCyDRQBM130_provenance.
• NP5152.RA2a4-Kck_-VGKa6JK7zR9A2Q6aZGXwFougsuq41KqoS4130_assertion description "[POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5152.RA2a4-Kck_-VGKa6JK7zR9A2Q6aZGXwFougsuq41KqoS4130_provenance.
• NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_assertion description "[Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5153.RA_ZcWcEzIaBfLIqEHrohuwBw9RNryPKihUBvlBf5_1k8130_provenance.
• NP5162.RA2LKHH_gzbcvcrd7KWhyAGuFJoOWws_Q2yqC6hlL_uhY130_assertion description "[We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5162.RA2LKHH_gzbcvcrd7KWhyAGuFJoOWws_Q2yqC6hlL_uhY130_provenance.
• NP5163.RA2Is1YTLS51li9cgJ6Glr10AO060sOvuSTwwRSUrcMYg130_assertion description "[Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5163.RA2Is1YTLS51li9cgJ6Glr10AO060sOvuSTwwRSUrcMYg130_provenance.
• NP5165.RA_FIx13TSrIM3wZfZfNBwy1uhRGuoWjIHhKGdD5LFTuI130_assertion description "[Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5165.RA_FIx13TSrIM3wZfZfNBwy1uhRGuoWjIHhKGdD5LFTuI130_provenance.
• NP5167.RA2bBAlaywyKx-oB_lJznKKfE4DMnDQgLc_BqnCb__Y2c130_assertion description "[Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5167.RA2bBAlaywyKx-oB_lJznKKfE4DMnDQgLc_BqnCb__Y2c130_provenance.
• NP5169.RA96QdeVrBjs3gDCRJR3n1UH4FRGV-dSNopr1c7a5AMTg130_assertion description "[Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5169.RA96QdeVrBjs3gDCRJR3n1UH4FRGV-dSNopr1c7a5AMTg130_provenance.
• NP5177.RA-2l1JELW1eBQxI_tvcWELr6ofbxCTZRGJR7x4PtIO14130_assertion description "[The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5177.RA-2l1JELW1eBQxI_tvcWELr6ofbxCTZRGJR7x4PtIO14130_provenance.
• NP5178.RA1HC2PGtXJxSXBRcnQ5rtRIRLdzA6lo6WnsLW4EzkePk130_assertion description "[Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5178.RA1HC2PGtXJxSXBRcnQ5rtRIRLdzA6lo6WnsLW4EzkePk130_provenance.
• NP5187.RA8cjiOt9IQ3l08hoHRoswOai2O8D92cKnk4hcKIcSH7Y130_assertion description "[Because the glycogen-associated regulatory subunit of protein phosphatase 1 (PP1 G-subunit) plays a key role in the insulin stimulation of glycogen synthesis and the activity of PP1 is decreased in insulin-resistant subjects, we have now cloned the human G-subunit cDNA to search for abnormalities in the corresponding gene (designated PPP1R3 in the human genome nomenclature) in patients with NIDDM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5187.RA8cjiOt9IQ3l08hoHRoswOai2O8D92cKnk4hcKIcSH7Y130_provenance.
• NP5188.RA8gIMPOAGacDlDAXNfhLwxp3Hb_D8VtWumO5MSgbS460130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5188.RA8gIMPOAGacDlDAXNfhLwxp3Hb_D8VtWumO5MSgbS460130_provenance.
• NP5192.RA1kLm7uGXqpNVHJlVS6uz99e40Eq5GZHcxFHQBJZOTG4130_assertion description "[Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5192.RA1kLm7uGXqpNVHJlVS6uz99e40Eq5GZHcxFHQBJZOTG4130_provenance.
• NP5196.RAyKgnlkQLz8CxcGfMRAq2iC9bxdSvCNowiun5ToNeW3k130_assertion description "[Mutations in prickle orthologs cause seizures in flies, mice, and humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5196.RAyKgnlkQLz8CxcGfMRAq2iC9bxdSvCNowiun5ToNeW3k130_provenance.
• NP5200.RAxCRne03s-UKaMyMbIo857nIw0Y-cbH4PIgBYUVnq8HY130_assertion description "[Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5200.RAxCRne03s-UKaMyMbIo857nIw0Y-cbH4PIgBYUVnq8HY130_provenance.
• NP5201.RA-8-FnX7MYLo4dBHna4gXXk68BYnGDVq1j39tr5aHnvE130_assertion description "[We now report a novel mutation in PRKAG2 causing Wolff-Parkinson-White syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5201.RA-8-FnX7MYLo4dBHna4gXXk68BYnGDVq1j39tr5aHnvE130_provenance.
• NP5203.RA2YR8Qy8ppfn_bbw2elQn2rQcBFZsX44sCpv4s6O25WI130_assertion description "[In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5203.RA2YR8Qy8ppfn_bbw2elQn2rQcBFZsX44sCpv4s6O25WI130_provenance.
• NP5204.RA4c5NsSXcK9FW2lHOzrqV7k8RHZ5sp_gZBQpCHk-qPg4130_assertion description "[Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5204.RA4c5NsSXcK9FW2lHOzrqV7k8RHZ5sp_gZBQpCHk-qPg4130_provenance.

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