Nanopublications

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

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NP4833.RAbR_0eXD3yVpweY6gvjsrRpF8aeq876mO7OGORPmoiRY130_assertion description "[Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4833.RAbR_0eXD3yVpweY6gvjsrRpF8aeq876mO7OGORPmoiRY130_provenance.
NP4834.RAdIAtOjZBd5e-M6OcmMA4ptkcco58E9ae_dhvezfmIRs130_assertion description "[Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4834.RAdIAtOjZBd5e-M6OcmMA4ptkcco58E9ae_dhvezfmIRs130_provenance.
NP4838.RAfGEFmWrikZyhJXA4B28Y-MYX-tZEG00YIusKoJI9Ij0130_assertion description "[A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4838.RAfGEFmWrikZyhJXA4B28Y-MYX-tZEG00YIusKoJI9Ij0130_provenance.
NP4842.RAanahJ_VlKzhDjEegLhyP80GsyA0g4g-iWysalDY2kz0130_assertion description "[Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4842.RAanahJ_VlKzhDjEegLhyP80GsyA0g4g-iWysalDY2kz0130_provenance.
NP4847.RAaXq-z7Xk0equiDcngDojMSH3egk3omk3m0kf9pE___A130_assertion description "[Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4847.RAaXq-z7Xk0equiDcngDojMSH3egk3omk3m0kf9pE___A130_provenance.
NP4856.RAc3cRWLTPyRlXqwYGCKRJnthntcKB9lh7IEZtmxxWb-o130_assertion description "[Molecular genetic characterization of an X-linked form of Leigh's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4856.RAc3cRWLTPyRlXqwYGCKRJnthntcKB9lh7IEZtmxxWb-o130_provenance.
NP4857.RAXFqrJxddONLJL5zer03EqgkN8V4PNaINs6S_dkNwjPE130_assertion description "[Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4857.RAXFqrJxddONLJL5zer03EqgkN8V4PNaINs6S_dkNwjPE130_provenance.
NP4861.RAa08eZM4jOxJ5l-cS-MgTirYEfDGPttMF8p3u5PSlqqg130_assertion description "[Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4861.RAa08eZM4jOxJ5l-cS-MgTirYEfDGPttMF8p3u5PSlqqg130_provenance.
NP4862.RAZKB_4n8kYZqQGZocPSSyvOtZfbAZzi1giefhk_wymcM130_assertion description "[The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4862.RAZKB_4n8kYZqQGZocPSSyvOtZfbAZzi1giefhk_wymcM130_provenance.
NP4864.RATwD9HCii0aWI5I3jW74gWZGQH1itZYQFPW3y-yufnTU130_assertion description "[A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4864.RATwD9HCii0aWI5I3jW74gWZGQH1itZYQFPW3y-yufnTU130_provenance.
NP4865.RAZiJ6HemM6NeK02UZNkfQMng47QQjM-TiYSblqWrLpnE130_assertion description "[Clinical and molecular features of adPEO due to mutations in the Twinkle gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4865.RAZiJ6HemM6NeK02UZNkfQMng47QQjM-TiYSblqWrLpnE130_provenance.
NP4866.RAVwYFCwqm4xehYdrYoNzLLRjJH37KPXlO8QkDvEWIV5c130_assertion description "[TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4866.RAVwYFCwqm4xehYdrYoNzLLRjJH37KPXlO8QkDvEWIV5c130_provenance.
NP4867.RAff3XABGRFBPQZgnlztkeFi6opSg8VF3BDY6lNoCQAbI130_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." NP4867.RAff3XABGRFBPQZgnlztkeFi6opSg8VF3BDY6lNoCQAbI130_provenance.
NP4872.RAZOUeGnY3BkmizI5cscqgeUtl8EG9xbN6eP41YrdkSr8130_assertion description "[Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4872.RAZOUeGnY3BkmizI5cscqgeUtl8EG9xbN6eP41YrdkSr8130_provenance.
NP4874.RAYYzLlIgyGqLqQcqoHwZYZIRvJIkkXI0STSLf6Ws7VUI130_assertion description "[A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4874.RAYYzLlIgyGqLqQcqoHwZYZIRvJIkkXI0STSLf6Ws7VUI130_provenance.
NP4875.RARs79m9z4kQ0BCWfnKrOBNqfpcRiYn3DnUTns-f16gNs130_assertion description "[Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4875.RARs79m9z4kQ0BCWfnKrOBNqfpcRiYn3DnUTns-f16gNs130_provenance.
NP4882.RAQIt-oWe5gITmGQI1jVLvfB7MBzyqGzTWTp-xC_JbCfs130_assertion description "[Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4882.RAQIt-oWe5gITmGQI1jVLvfB7MBzyqGzTWTp-xC_JbCfs130_provenance.
NP4884.RAancsAwFKsEupEyIDUq-G2p7B5eUtxx-I8b7GwjrJkSQ130_assertion description "[Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4884.RAancsAwFKsEupEyIDUq-G2p7B5eUtxx-I8b7GwjrJkSQ130_provenance.
NP4887.RAVUZQ2HVlfaRtZEM_-XNcnlyL7DgPAQx4lKZ7EK2Y5JY130_assertion description "[Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4887.RAVUZQ2HVlfaRtZEM_-XNcnlyL7DgPAQx4lKZ7EK2Y5JY130_provenance.
NP4889.RAQ_nPlTM9o9BhIwj1H_zGS8Wau1fOnd90czgM-y91q5E130_assertion description "[Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4889.RAQ_nPlTM9o9BhIwj1H_zGS8Wau1fOnd90czgM-y91q5E130_provenance.
NP4890.RAe-sKJHwDmt-kugeEPOOQa5kAOTb4wOBOw-37m8Z5Tik130_assertion description "[The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4890.RAe-sKJHwDmt-kugeEPOOQa5kAOTb4wOBOw-37m8Z5Tik130_provenance.
NP4895.RAd8ET6Nvh9LJoCl8piUVg2nSdojAI8dwfoTkn7AuPO-U130_assertion description "[Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4895.RAd8ET6Nvh9LJoCl8piUVg2nSdojAI8dwfoTkn7AuPO-U130_provenance.
NP4898.RAcR9wZBbpu7lP6esYGYl9har88wTmUW0TI0bCDsCZXPE130_assertion description "[A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4898.RAcR9wZBbpu7lP6esYGYl9har88wTmUW0TI0bCDsCZXPE130_provenance.
NP4902.RAcdS3H-gbGs2uDKvvZiars5XeRxy_j_L1__tXpZOA6nU130_assertion description "[PEX, the gene that is defective in HYP and is located on Xp22.1, is homologous to members of the neutral endopeptidase family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4902.RAcdS3H-gbGs2uDKvvZiars5XeRxy_j_L1__tXpZOA6nU130_provenance.
NP4905.RAU_uvnStZVAFxZHUMFViWF7ciqVf_irBPaGnNTcW0kV0130_assertion description "[Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4905.RAU_uvnStZVAFxZHUMFViWF7ciqVf_irBPaGnNTcW0kV0130_provenance.
NP4907.RAbPSiTy1sko63qzBhmUxGK0fLBVehjzofmU4vG6vjFYs130_assertion description "[Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4907.RAbPSiTy1sko63qzBhmUxGK0fLBVehjzofmU4vG6vjFYs130_provenance.
NP4921.RAQS-meMu8lWC_oIMEde4GneFX2EbU7inF8V6WyvVxaw8130_assertion description "[Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4921.RAQS-meMu8lWC_oIMEde4GneFX2EbU7inF8V6WyvVxaw8130_provenance.
NP4929.RASgwcDJEommcieOykuVK3tKErz5oX5jA59GxvAcgeAts130_assertion description "[Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4929.RASgwcDJEommcieOykuVK3tKErz5oX5jA59GxvAcgeAts130_provenance.
NP4930.RAdeKdVB1JomIGSZ1a95huSh6JbmBjsdypt9IEEuA9QJU130_assertion description "[Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4930.RAdeKdVB1JomIGSZ1a95huSh6JbmBjsdypt9IEEuA9QJU130_provenance.
NP4931.RAV_s-c3omBHXQKUyyPoDvTrVN7GL938xHyIryaHuq8ak130_assertion description "[The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4931.RAV_s-c3omBHXQKUyyPoDvTrVN7GL938xHyIryaHuq8ak130_provenance.
NP4932.RAfzZzalD0E-ivTZLkG_0s4m9UCwy5jaEAPbJrMYIjxlk130_assertion description "[Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4932.RAfzZzalD0E-ivTZLkG_0s4m9UCwy5jaEAPbJrMYIjxlk130_provenance.
NP4934.RAQ6-UZrMBzEaRKqpOErHplQKtInQD1FcPUv6jiUM6czQ130_assertion description "[Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4934.RAQ6-UZrMBzEaRKqpOErHplQKtInQD1FcPUv6jiUM6czQ130_provenance.
NP4937.RARZaRdFulav7gdJRmvA2_CF_INCMgb6fJPy3ingG9cDA130_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." NP4937.RARZaRdFulav7gdJRmvA2_CF_INCMgb6fJPy3ingG9cDA130_provenance.
NP4940.RASoFC6qfGBCOmJIIwDq_xfSH7L17KY4OJMgq8EQ4c6OI130_assertion description "[De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4940.RASoFC6qfGBCOmJIIwDq_xfSH7L17KY4OJMgq8EQ4c6OI130_provenance.
NP4941.RAU_SIYFys-SHiIKEokRShqhMngUQOCVPzZLr2PNtPX7c130_assertion description "[De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4941.RAU_SIYFys-SHiIKEokRShqhMngUQOCVPzZLr2PNtPX7c130_provenance.
NP4949.RAThAnt_Jz2BbcI64GkLYoCL4i3LViQqGneOVJ7sAFRdE130_assertion description "[Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4949.RAThAnt_Jz2BbcI64GkLYoCL4i3LViQqGneOVJ7sAFRdE130_provenance.
NP4950.RAUCwddhl6BDwR0Pi76fpDDsN-bsBhnKEFKfQap5Qb5Oc130_assertion description "[Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4950.RAUCwddhl6BDwR0Pi76fpDDsN-bsBhnKEFKfQap5Qb5Oc130_provenance.
NP4957.RAdfS8yt3I6kezpeOIJOmKa0ph0W7jM2cOeuIMbv0Tz4E130_assertion description "[Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4957.RAdfS8yt3I6kezpeOIJOmKa0ph0W7jM2cOeuIMbv0Tz4E130_provenance.
NP4964.RAbezFSKBQN2jX7-j_S4qAl6sIcsE3tow6URTZCPDkAbA130_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." NP4964.RAbezFSKBQN2jX7-j_S4qAl6sIcsE3tow6URTZCPDkAbA130_provenance.
NP4967.RAcHST0hqwDdSHa_u59gngXRkGXYVJby63OHgopUAeH1E130_assertion description "[Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4967.RAcHST0hqwDdSHa_u59gngXRkGXYVJby63OHgopUAeH1E130_provenance.
NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_assertion description "[The sequence similarity between the PKD1 and HG regions has precluded specific analysis of the duplicated region of PKD1, and consequently all previously described mutations map to the unique 3' region of PKD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_provenance.
NP4982.RAduhpYgrpmIvdrHZkFxOzHT8RLJsd_mlXXkzJ4g9_OD8130_assertion description "[The consensus coding sequences of human breast and colorectal cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4982.RAduhpYgrpmIvdrHZkFxOzHT8RLJsd_mlXXkzJ4g9_OD8130_provenance.
NP4985.RAdQz7F8gwNFODK8wKY-IYkcIId3hs9No--U-cKhoELaw130_assertion description "[PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4985.RAdQz7F8gwNFODK8wKY-IYkcIId3hs9No--U-cKhoELaw130_provenance.
NP4988.RAXRc7ViSUOSybAGgC1RMNr1Tob5-dOSisJmi4CPet4Oc130_assertion description "[Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4988.RAXRc7ViSUOSybAGgC1RMNr1Tob5-dOSisJmi4CPet4Oc130_provenance.
NP4989.RAYOIMIltAWyaxJyuaFEmP-PGqv-n_5VAEfgQjOT8bjSg130_assertion description "[Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4989.RAYOIMIltAWyaxJyuaFEmP-PGqv-n_5VAEfgQjOT8bjSg130_provenance.
NP4990.RAf5Cmjh4BZNT50Lh2kMlF0I91Q1DCJSqlqL4aY92C2Es130_assertion description "[A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4990.RAf5Cmjh4BZNT50Lh2kMlF0I91Q1DCJSqlqL4aY92C2Es130_provenance.
NP4993.RAVQhxTHuv9LVrYMvKTPP_y6wg18Kg7XAUQv6-Dyw5AYM130_assertion description "[Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4993.RAVQhxTHuv9LVrYMvKTPP_y6wg18Kg7XAUQv6-Dyw5AYM130_provenance.
NP4994.RAc5P7Mf4HH9G3_WEa-stW-eF2hWKWZGARL2__OTii1BQ130_assertion description "[Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4994.RAc5P7Mf4HH9G3_WEa-stW-eF2hWKWZGARL2__OTii1BQ130_provenance.
NP5003.RARjdpSHWiHwIYhLYsXK_A0qd5j0s0pgCg1ipS7Dy98O8130_assertion description "[Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5003.RARjdpSHWiHwIYhLYsXK_A0qd5j0s0pgCg1ipS7Dy98O8130_provenance.
NP5008.RAXXzAMnJSVJQM8Pz206AMZLt8bVMOo1VhSDCEOMUwDD8130_assertion description "[A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5008.RAXXzAMnJSVJQM8Pz206AMZLt8bVMOo1VhSDCEOMUwDD8130_provenance.
NP5012.RAfGQuxfwnzeGohjenjeZRCo7YEPPILLQRzRYi2mP9XF4130_assertion description "[Plasminogen with type-I mutation is polymorphic in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5012.RAfGQuxfwnzeGohjenjeZRCo7YEPPILLQRzRYi2mP9XF4130_provenance.
NP5018.RAVzt_Q4VeidWa3d8Ba6YHh2Cv8hJPmXFAim83HYQ9A0I130_assertion description "[In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5018.RAVzt_Q4VeidWa3d8Ba6YHh2Cv8hJPmXFAim83HYQ9A0I130_provenance.
NP5026.RAc2TdmFdkdiZD-UaY2Do25iodn36FrFlFOu2CvdWWFs4130_assertion description "[Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5026.RAc2TdmFdkdiZD-UaY2Do25iodn36FrFlFOu2CvdWWFs4130_provenance.
NP5029.RAeXf3f0ldlMdwVu77irEbHatODvgzJCfssRkyHXz8E0w130_assertion description "[Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5029.RAeXf3f0ldlMdwVu77irEbHatODvgzJCfssRkyHXz8E0w130_provenance.
NP5046.RAZFAmJ42cMNtU3naRs1kKpP7iydRGvKpKPX24Qbh8vvk130_assertion description "[Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5046.RAZFAmJ42cMNtU3naRs1kKpP7iydRGvKpKPX24Qbh8vvk130_provenance.
NP5049.RATuF7DtDA1YpqAUwBDMJaRUklxdQTSmVkYHQdeZMbU2k130_assertion description "[DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5049.RATuF7DtDA1YpqAUwBDMJaRUklxdQTSmVkYHQdeZMbU2k130_provenance.
NP5050.RAaMnXSVJeyTQNzgtPR_8E1S_ehuHoHDS4Od3ZVfqwt4A130_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." NP5050.RAaMnXSVJeyTQNzgtPR_8E1S_ehuHoHDS4Od3ZVfqwt4A130_provenance.
NP5051.RAZdSEqRX493BRbouxlDBixugL1zXaNq7i_H_K5vE2Aw8130_assertion description "[Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5051.RAZdSEqRX493BRbouxlDBixugL1zXaNq7i_H_K5vE2Aw8130_provenance.
NP5056.RAaJ-3wLrmXw2mM1k8V1tQc4Qb3NdMONTUHOOJN_gpqK0130_assertion description "[Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5056.RAaJ-3wLrmXw2mM1k8V1tQc4Qb3NdMONTUHOOJN_gpqK0130_provenance.
NP5060.RAQJPuX76FcDHzMYTMW01Y9BlhilmV53d0_B-gV4KgPYw130_assertion description "[Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5060.RAQJPuX76FcDHzMYTMW01Y9BlhilmV53d0_B-gV4KgPYw130_provenance.
NP5061.RAUXc_0SAujbbEUfRqrxQralGPEz5xUkPbbG0pjgJgZyU130_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." NP5061.RAUXc_0SAujbbEUfRqrxQralGPEz5xUkPbbG0pjgJgZyU130_provenance.
NP5072.RAa0fWiYnjYpHav_fXEoNZtZ7_td6VukNCNDqW2vWpQUU130_assertion description "[HNPP due to a novel missense mutation of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5072.RAa0fWiYnjYpHav_fXEoNZtZ7_td6VukNCNDqW2vWpQUU130_provenance.
NP5076.RAbMxc5X55F_sPGkpdPO4LpeMBYRmSfcC-xwy82gpp4TE130_assertion description "[Drastic genetic instability of tumors and normal tissues in Turcot syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5076.RAbMxc5X55F_sPGkpdPO4LpeMBYRmSfcC-xwy82gpp4TE130_provenance.
NP5087.RASwg0qiA7hGdlhq0lrNEb8zOmfeUHmvZ4Ozxxas1dBkk130_assertion description "[Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5087.RASwg0qiA7hGdlhq0lrNEb8zOmfeUHmvZ4Ozxxas1dBkk130_provenance.
NP5089.RAYPLTfyF6Dq8xQs2nwMYc3f34uTtndnRUn0dtDb0Ap30130_assertion description "[Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5089.RAYPLTfyF6Dq8xQs2nwMYc3f34uTtndnRUn0dtDb0Ap30130_provenance.
NP5091.RAYpd5ymFBNdN_IQ2JdExXtHiZOQBvAy0_eCv9dGgmnvs130_assertion description "[Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5091.RAYpd5ymFBNdN_IQ2JdExXtHiZOQBvAy0_eCv9dGgmnvs130_provenance.
NP5094.RAbsD06ED9iMoPv29uOoiP9_Mi7q3-VxEyp8ZGQ0doHtM130_assertion description "[Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5094.RAbsD06ED9iMoPv29uOoiP9_Mi7q3-VxEyp8ZGQ0doHtM130_provenance.
NP5097.RATjjyLKCtqgMkCDhN9S0vLO3HTT82xxpfWFlrkDwFlfA130_assertion description "[Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5097.RATjjyLKCtqgMkCDhN9S0vLO3HTT82xxpfWFlrkDwFlfA130_provenance.
NP5098.RAWfhB8yEXz4GPBVznjE_5xU89jq4I4lmR0HeCKidvBFQ130_assertion description "[POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5098.RAWfhB8yEXz4GPBVznjE_5xU89jq4I4lmR0HeCKidvBFQ130_provenance.
NP5099.RAWxDhcaDPUqUbyMULy6m-px_8e3yIKlFP4WKEZoxs0RI130_assertion description "[Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5099.RAWxDhcaDPUqUbyMULy6m-px_8e3yIKlFP4WKEZoxs0RI130_provenance.
NP5102.RATR4nujfUMw1heMZMJZbLduyuSX658wMBErGjUQnNz98130_assertion description "[Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5102.RATR4nujfUMw1heMZMJZbLduyuSX658wMBErGjUQnNz98130_provenance.
NP5106.RAT-J-eWwOvPp5q4lZNDHkwIq_7BqYX6gaZd4apFsQJrY130_assertion description "[Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5106.RAT-J-eWwOvPp5q4lZNDHkwIq_7BqYX6gaZd4apFsQJrY130_provenance.
NP5108.RAeQ9rUwRm2w1fjqyvoR4-bM7zUHNrxagPzvaSMIxcgMU130_assertion description "[POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5108.RAeQ9rUwRm2w1fjqyvoR4-bM7zUHNrxagPzvaSMIxcgMU130_provenance.
NP5112.RASOHR7LpXTgLMh6JVnuNbgOY8hRuSV4IXTGDKvIS1gQQ130_assertion description "[Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5112.RASOHR7LpXTgLMh6JVnuNbgOY8hRuSV4IXTGDKvIS1gQQ130_provenance.
NP5114.RAYjYIaddKKb_o3A-7SILzfJ9ZMDzXu3_s5SvOUzTCK_U130_assertion description "[Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5114.RAYjYIaddKKb_o3A-7SILzfJ9ZMDzXu3_s5SvOUzTCK_U130_provenance.
NP5119.RAVuSX5hCwZPjS7WCshIIJYgc2BmyBJUqiDHHRx9unlZs130_assertion description "[Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5119.RAVuSX5hCwZPjS7WCshIIJYgc2BmyBJUqiDHHRx9unlZs130_provenance.
NP5124.RASd49i7-H1pE2INU4gr-PiYYSGBqafAI2dipDHJJX3Uw130_assertion description "[Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5124.RASd49i7-H1pE2INU4gr-PiYYSGBqafAI2dipDHJJX3Uw130_provenance.
NP5125.RARHkpe8-jHkk8Y7R-kNsQky4ZuxRBfVNZbpzckaBxkUM130_assertion description "[Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5125.RARHkpe8-jHkk8Y7R-kNsQky4ZuxRBfVNZbpzckaBxkUM130_provenance.
NP5128.RAelhi9JmGP6BjJpKr_AeZbxSFNJVjEaxwYJZv7OrbCqU130_assertion description "[Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5128.RAelhi9JmGP6BjJpKr_AeZbxSFNJVjEaxwYJZv7OrbCqU130_provenance.
NP5129.RAS_LTsV0mdHs5ZQb8P_rQ7EQkAmotJaW4T0d3clotX2c130_assertion description "[Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5129.RAS_LTsV0mdHs5ZQb8P_rQ7EQkAmotJaW4T0d3clotX2c130_provenance.
NP5139.RAYWCsrKtC6i-hc5cEXYDxkcv8ycQHYG3G6UGmQYRyFPs130_assertion description "[Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5139.RAYWCsrKtC6i-hc5cEXYDxkcv8ycQHYG3G6UGmQYRyFPs130_provenance.
NP5144.RASaO3BRHdYFzSVE6IisnTqqz9G8A4NJFS_ZqelyyiK-E130_assertion description "[The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5144.RASaO3BRHdYFzSVE6IisnTqqz9G8A4NJFS_ZqelyyiK-E130_provenance.
NP5147.RAaZlNWOZkLo867SPg6BoeNalGxlhwLDbkUvOciqXRA90130_assertion description "[The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5147.RAaZlNWOZkLo867SPg6BoeNalGxlhwLDbkUvOciqXRA90130_provenance.
NP5149.RAXa0Egp02yXv8rAizWeIBJTVtLUlUu9jW6cD0j3Jc4v8130_assertion description "[Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5149.RAXa0Egp02yXv8rAizWeIBJTVtLUlUu9jW6cD0j3Jc4v8130_provenance.
NP5154.RAf9F3auWbMoqgQ32cpFS3fgbEs6n4F54nVdQyb0-AzFY130_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." NP5154.RAf9F3auWbMoqgQ32cpFS3fgbEs6n4F54nVdQyb0-AzFY130_provenance.
NP5156.RAQBFtAqiTlruNy6lqrrQEHAltt5ybSI1Nv-e8Da34KzE130_assertion description "[New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5156.RAQBFtAqiTlruNy6lqrrQEHAltt5ybSI1Nv-e8Da34KzE130_provenance.
NP5157.RAUCHuj7Iofweekf9BhQF-5RbiuDsAYWP70Kpj21V0oik130_assertion description "[Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5157.RAUCHuj7Iofweekf9BhQF-5RbiuDsAYWP70Kpj21V0oik130_provenance.
NP5158.RAY4DUfpLvmj8BtMP0lWu9ELIJl7Ty7CopQxPiLTEXwYs130_assertion description "[PORCN mutations in focal dermal hypoplasia: coping with lethality.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5158.RAY4DUfpLvmj8BtMP0lWu9ELIJl7Ty7CopQxPiLTEXwYs130_provenance.
NP5159.RASHKWqtiBkiG1_-PgtJgdafnRJgKdlxSHUjEPc0HHvwI130_assertion description "[PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5159.RASHKWqtiBkiG1_-PgtJgdafnRJgKdlxSHUjEPc0HHvwI130_provenance.
NP5160.RAfIfiiWmHjkU9hxdjWV_UdJL2P27q5UfGHJuG1EXukMI130_assertion description "[Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5160.RAfIfiiWmHjkU9hxdjWV_UdJL2P27q5UfGHJuG1EXukMI130_provenance.
NP5161.RAcvcuCplqVY-QCvQnAdaB1a56nZZHHN4dRaa3hdj3GVE130_assertion description "[Novel PORCN mutations in focal dermal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5161.RAcvcuCplqVY-QCvQnAdaB1a56nZZHHN4dRaa3hdj3GVE130_provenance.
NP5168.RAZ5TyTvUA2_pIC3VaoOi1oo8eNxe25sRIuUkKAyM6cN4130_assertion description "[Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5168.RAZ5TyTvUA2_pIC3VaoOi1oo8eNxe25sRIuUkKAyM6cN4130_provenance.
NP5171.RARxCq4TPw4eEb9q8I5Cb0TiRHPwNP0FiQ2CHaeKY7Z40130_assertion description "[Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5171.RARxCq4TPw4eEb9q8I5Cb0TiRHPwNP0FiQ2CHaeKY7Z40130_provenance.
NP5174.RAQ5UNstiwx81Ttm_lNxaydCgpl8JjDlcr9HSmPdNh4YM130_assertion description "[Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5174.RAQ5UNstiwx81Ttm_lNxaydCgpl8JjDlcr9HSmPdNh4YM130_provenance.
NP5176.RAasWKxLOpHFrBK1vMxnfXuBlJ68Map43NfqtGXTLbL84130_assertion description "[Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5176.RAasWKxLOpHFrBK1vMxnfXuBlJ68Map43NfqtGXTLbL84130_provenance.
NP5184.RAR95gOEtG8SqTL2JsQKpGYENvJ3Ye6Z_eI8AQNvvLLjY130_assertion description "[A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5184.RAR95gOEtG8SqTL2JsQKpGYENvJ3Ye6Z_eI8AQNvvLLjY130_provenance.
NP5186.RAYOIHNn745zqSCmmHV_gk3VTmmshIVGuJdOlNa_KtTcw130_assertion description "[Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5186.RAYOIHNn745zqSCmmHV_gk3VTmmshIVGuJdOlNa_KtTcw130_provenance.
NP5194.RAdaeT0sSIDcwAvC-j1D6vEqwCN3uhl2cmEs8p0s0CVQ0130_assertion description "[Perforin gene defects in familial hemophagocytic lymphohistiocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5194.RAdaeT0sSIDcwAvC-j1D6vEqwCN3uhl2cmEs8p0s0CVQ0130_provenance.
NP5195.RAeD-9Y_CTlYf7kkgHEo1QEQ_dYC20NlYol-HhS_NepU4130_assertion description "[Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5195.RAeD-9Y_CTlYf7kkgHEo1QEQ_dYC20NlYol-HhS_NepU4130_provenance.
NP5198.RATOmNT4WKe5KGws2F2JxzlCDADYTQMkmcfGXUINw0pnI130_assertion description "[Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5198.RATOmNT4WKe5KGws2F2JxzlCDADYTQMkmcfGXUINw0pnI130_provenance.

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