Nanopublications

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

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NP4007.RAYzX_mjdpF5f7obttmsvOAjG_o3PntIGqieC4WHTSduo130_assertion description "[Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4007.RAYzX_mjdpF5f7obttmsvOAjG_o3PntIGqieC4WHTSduo130_provenance.
NP4011.RAYJRJDVpCehJQ7GBuTYznT1lRBvHzXL3v2ODmkWc6IIk130_assertion description "[Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4011.RAYJRJDVpCehJQ7GBuTYznT1lRBvHzXL3v2ODmkWc6IIk130_provenance.
NP4012.RAVnhl5FuC49VS4Hx06C1mUSOfcWL8ZzgWX8UHdEIxu2g130_assertion description "[Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4012.RAVnhl5FuC49VS4Hx06C1mUSOfcWL8ZzgWX8UHdEIxu2g130_provenance.
NP4014.RAXMBEl4Rw7PR8TGTEv3BA8DrxYGkqI0Zhq7Nokvp1vpQ130_assertion description "[Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4014.RAXMBEl4Rw7PR8TGTEv3BA8DrxYGkqI0Zhq7Nokvp1vpQ130_provenance.
NP4015.RAbdvjeieRYQS7t3DnkdNR1klPwKhguYsR5R5DhkoULbM130_assertion description "[Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4015.RAbdvjeieRYQS7t3DnkdNR1klPwKhguYsR5R5DhkoULbM130_provenance.
NP4016.RAUFop8TF8SQ-9RBpjZKIuwBnIMIDFySVIx720j4fG0Qs130_assertion description "[A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4016.RAUFop8TF8SQ-9RBpjZKIuwBnIMIDFySVIx720j4fG0Qs130_provenance.
NP4020.RAYGWrG0L2gm-Di90hG_r1w5sv2IBbLVFxvls97ZXxGcM130_assertion description "[Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4020.RAYGWrG0L2gm-Di90hG_r1w5sv2IBbLVFxvls97ZXxGcM130_provenance.
NP4021.RAQL6Jn6mFKZSIwQ6sHlCybUHubToZMkjQOUP1I3Metdo130_assertion description "[A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4021.RAQL6Jn6mFKZSIwQ6sHlCybUHubToZMkjQOUP1I3Metdo130_provenance.
NP4036.RASTqhX_Im8oSqfyPI8jMJoMEMdKULY0bdKrDl7AtNSsg130_assertion description "[Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4036.RASTqhX_Im8oSqfyPI8jMJoMEMdKULY0bdKrDl7AtNSsg130_provenance.
NP4050.RAb2gu_0HnxKmnq0ABwQY_ELhgp3L47Sp_wcCAL67zItk130_assertion description "[Further support for digenic inheritance in Bardet-Biedl syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4050.RAb2gu_0HnxKmnq0ABwQY_ELhgp3L47Sp_wcCAL67zItk130_provenance.
NP4062.RAQoEbHMLCqtFClbNQWpS7dm-KdSTXyRS2E2u7ih0Muac130_assertion description "[Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4062.RAQoEbHMLCqtFClbNQWpS7dm-KdSTXyRS2E2u7ih0Muac130_provenance.
NP4063.RAYyDX3OJ2qQ8Js3pResoGLztbFoG5vNHdl_dIQLE0hNw130_assertion description "[Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4063.RAYyDX3OJ2qQ8Js3pResoGLztbFoG5vNHdl_dIQLE0hNw130_provenance.
NP4064.RAe8MSZP0zIbXpYv8OpBQ8PJOHjmLmMYzW66Wc59nQ9YA130_assertion description "[A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4064.RAe8MSZP0zIbXpYv8OpBQ8PJOHjmLmMYzW66Wc59nQ9YA130_provenance.
NP4068.RAQTg3XvnryDDea4x03nbzw4QCVHg_oQ6GueyZ1sHwXZw130_assertion description "[Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4068.RAQTg3XvnryDDea4x03nbzw4QCVHg_oQ6GueyZ1sHwXZw130_provenance.
NP4069.RAcsrxbAaVr6VEiX-5Db6d92cbAGxYTPwFmXJoq3O88_k130_assertion description "[Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4069.RAcsrxbAaVr6VEiX-5Db6d92cbAGxYTPwFmXJoq3O88_k130_provenance.
NP4082.RAc1zhYw3e4HNKb_WsYQM3znu_S-6nQB5gyIdOLg3gyKM130_assertion description "[Gene identification for the cblD defect of vitamin B12 metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4082.RAc1zhYw3e4HNKb_WsYQM3znu_S-6nQB5gyIdOLg3gyKM130_provenance.
NP4090.RARJNTmJz8vdIBg4HlBS_xNPvrNLCXP8zGJdy24eEU-qM130_assertion description "[The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype-phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4090.RARJNTmJz8vdIBg4HlBS_xNPvrNLCXP8zGJdy24eEU-qM130_provenance.
NP4091.RATYWh2JjbRz-aJ5Q2YjUBsPfwLiC168kJJWrG2dj-32M130_assertion description "[Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4091.RATYWh2JjbRz-aJ5Q2YjUBsPfwLiC168kJJWrG2dj-32M130_provenance.
NP4098.RAZyLvfts7QZNJ5LC7V1kwuY3UvXmk0O0blUJPwqy0L6o130_assertion description "[Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4098.RAZyLvfts7QZNJ5LC7V1kwuY3UvXmk0O0blUJPwqy0L6o130_provenance.
NP4101.RAXgfuEo_6Bofm0SdWQCWQhujsOFeFFLInl8YyLkGN-iY130_assertion description "[MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4101.RAXgfuEo_6Bofm0SdWQCWQhujsOFeFFLInl8YyLkGN-iY130_provenance.
NP4117.RAWu5WlMbicOxcJzw_oKHL9--ivh_pRnJLpeP2WG_9RxY130_assertion description "[MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4117.RAWu5WlMbicOxcJzw_oKHL9--ivh_pRnJLpeP2WG_9RxY130_provenance.
NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion description "[A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
NP4123.RAdjz6ZE0jHIKNQuyE0EGiJ69GnvDQUY5llKTApSZ_Ruk130_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." NP4123.RAdjz6ZE0jHIKNQuyE0EGiJ69GnvDQUY5llKTApSZ_Ruk130_provenance.
NP4125.RAQ6LfpvyjdjRWKUj1n1p3o7cO3ur2KM078YXH828q5OM130_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." NP4125.RAQ6LfpvyjdjRWKUj1n1p3o7cO3ur2KM078YXH828q5OM130_provenance.
NP4133.RAVtymY8tmfEfd4fUeKOeuMgRhGAGfXR5b7jbYOn4RQiU130_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." NP4133.RAVtymY8tmfEfd4fUeKOeuMgRhGAGfXR5b7jbYOn4RQiU130_provenance.
NP4139.RAUZpopHFu5RE3OIDiWi5TAZbna2MAJFIIWuTBKPt-gWM130_assertion description "[Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4139.RAUZpopHFu5RE3OIDiWi5TAZbna2MAJFIIWuTBKPt-gWM130_provenance.
NP4142.RASEirlPyQwzIkt7NU5bGJmuLxQmeSrr6NNx1yRO9iVEs130_assertion description "[Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4142.RASEirlPyQwzIkt7NU5bGJmuLxQmeSrr6NNx1yRO9iVEs130_provenance.
NP4146.RAdWkvzEuw_Og-ej0FEF4Eccu2cPnrt2BmsMfHLT0o4Uc130_assertion description "[Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lvy syndrome (RLS) being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4146.RAdWkvzEuw_Og-ej0FEF4Eccu2cPnrt2BmsMfHLT0o4Uc130_provenance.
NP4155.RAfzb6LlpVFMXyRQCVWizMlqC683H7WZqRIy8NknQi_bU130_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." NP4155.RAfzb6LlpVFMXyRQCVWizMlqC683H7WZqRIy8NknQi_bU130_provenance.
NP4160.RAcHIVrlJFF4-AP5FVl7qFDUPNEPqF3wOyHzx85vLjccw130_assertion description "[Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4160.RAcHIVrlJFF4-AP5FVl7qFDUPNEPqF3wOyHzx85vLjccw130_provenance.
NP4164.RAe2ByVFnLpL4FVuzXvmjNCBZtnDxGEZorTsnw5VSBsAc130_assertion description "[Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4164.RAe2ByVFnLpL4FVuzXvmjNCBZtnDxGEZorTsnw5VSBsAc130_provenance.
NP4165.RASlLJQVisnmKs4d41obREf9SOrhgMPtdaxPyEH2ZfRr4130_assertion description "[We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4165.RASlLJQVisnmKs4d41obREf9SOrhgMPtdaxPyEH2ZfRr4130_provenance.
NP4166.RAZgTOjNhNQw5nIC2gP6VR4DZgLmb3Vv0jhF6daCOWusE130_assertion description "[The role of MSX1 in human tooth agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4166.RAZgTOjNhNQw5nIC2gP6VR4DZgLmb3Vv0jhF6daCOWusE130_provenance.
NP4170.RAdzo0nmxgC74XTb2A-fK51fiD9qP1HBgHjn8QIIwOKr0130_assertion description "[Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4170.RAdzo0nmxgC74XTb2A-fK51fiD9qP1HBgHjn8QIIwOKr0130_provenance.
NP4172.RATQfd0_46afsZiwm7geQCQGb1476V05_xZ4Ae9SC1Ym4130_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." NP4172.RATQfd0_46afsZiwm7geQCQGb1476V05_xZ4Ae9SC1Ym4130_provenance.
NP4173.RAc-iOpnO7dZaC42OgGhOHcPX1gaoSks5TBsoGfiiyGDQ130_assertion description "[Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4173.RAc-iOpnO7dZaC42OgGhOHcPX1gaoSks5TBsoGfiiyGDQ130_provenance.
NP4177.RAclAEtRDzdx6P3skYZHgcH0d8ODG5sFPZ0xlwSKbzqsE130_assertion description "[Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4177.RAclAEtRDzdx6P3skYZHgcH0d8ODG5sFPZ0xlwSKbzqsE130_provenance.
NP4179.RAXwnzM3JAMVi9ShyswrrUGHbL0b8ZTlLsdiO2BvLcv0U130_assertion description "[Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4179.RAXwnzM3JAMVi9ShyswrrUGHbL0b8ZTlLsdiO2BvLcv0U130_provenance.
NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_assertion description "[Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4190.RAerBNpkvHS_HG0Ka_s9TT_X3wqR4FsU3s5fi3fbbAelU130_provenance.
NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_assertion description "[X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4192.RAZnpoPw0lFbmvRfj2phD90i0IiWipr985CYw_GqG65wI130_provenance.
NP4195.RAexRzwI_Zyt1wcTevvwRcnCVKUySXHzOFQ-6MCnVecZU130_assertion description "[Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4195.RAexRzwI_Zyt1wcTevvwRcnCVKUySXHzOFQ-6MCnVecZU130_provenance.
NP4196.RAT7pAFEWHllWJeek0hymOHpKvzmNAIJZc2FQWy78zs2A130_assertion description "[Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4196.RAT7pAFEWHllWJeek0hymOHpKvzmNAIJZc2FQWy78zs2A130_provenance.
NP4198.RARxk-Gb93YuugosFEJcCpS_BeYrOWp-_wZMvn5GCQKqo130_assertion description "[Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4198.RARxk-Gb93YuugosFEJcCpS_BeYrOWp-_wZMvn5GCQKqo130_provenance.
NP4210.RAcBrx-xIuOhg1O4xxhEntnJ4vzO4UCKdLT7NtG8lAqsI130_assertion description "[Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4210.RAcBrx-xIuOhg1O4xxhEntnJ4vzO4UCKdLT7NtG8lAqsI130_provenance.
NP4212.RAXJt-R9Jt9aYo70CBHgPEja7fvO6dnFZzzoiZdTslr8M130_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." NP4212.RAXJt-R9Jt9aYo70CBHgPEja7fvO6dnFZzzoiZdTslr8M130_provenance.
NP4214.RARN2lA5BEkX7gzMPSFQC7MhmDLDaF2_DzkhoTVfsTi-Y130_assertion description "[A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4214.RARN2lA5BEkX7gzMPSFQC7MhmDLDaF2_DzkhoTVfsTi-Y130_provenance.
NP4215.RARl3dSn_bbK_4jwb3jlvByE-k0KdJGYWQq3lVDNVNqGU130_assertion description "[Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4215.RARl3dSn_bbK_4jwb3jlvByE-k0KdJGYWQq3lVDNVNqGU130_provenance.
NP4219.RAcAUpgHck0MgWYIASQWlD3E9LhqdMPq_RgVYiNqXwXlI130_assertion description "[The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4219.RAcAUpgHck0MgWYIASQWlD3E9LhqdMPq_RgVYiNqXwXlI130_provenance.
NP4221.RAShbq2LD4xYah5JlYc5pF4z5z6_BzWlE0UHP7ur9GT0g130_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." NP4221.RAShbq2LD4xYah5JlYc5pF4z5z6_BzWlE0UHP7ur9GT0g130_provenance.
NP4222.RAZGdYQIyIRpt_9A6MrAStH1hEhEYSnrUi1BT-mvnZjhY130_assertion description "[Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4222.RAZGdYQIyIRpt_9A6MrAStH1hEhEYSnrUi1BT-mvnZjhY130_provenance.
NP4223.RAb3q-LnGKENTL00eIqgLn3efBo9R8IZmD3V1qKAn2Sm0130_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." NP4223.RAb3q-LnGKENTL00eIqgLn3efBo9R8IZmD3V1qKAn2Sm0130_provenance.
NP4229.RAYEUvkdzmqI3CK4dxM39u6cdjaym5pNXMtsdUFqZMFXo130_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." NP4229.RAYEUvkdzmqI3CK4dxM39u6cdjaym5pNXMtsdUFqZMFXo130_provenance.
NP4234.RAYY4NHGOMMR9eP2SBbZI5Qcbe07Hmgq1XwSbSCCvx120130_assertion description "[Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4234.RAYY4NHGOMMR9eP2SBbZI5Qcbe07Hmgq1XwSbSCCvx120130_provenance.
NP4236.RAUAOyMfIVZApjBIqUFuPvpOFcb92qNEum4skfwmQXjZo130_assertion description "[Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4236.RAUAOyMfIVZApjBIqUFuPvpOFcb92qNEum4skfwmQXjZo130_provenance.
NP4243.RASwgGA_StOrNl4euo1qsYBLKQCqzsGaMp0jzyh9qFfJI130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4243.RASwgGA_StOrNl4euo1qsYBLKQCqzsGaMp0jzyh9qFfJI130_provenance.
NP4244.RAepsLcPQZaUaTeGSy4AruxtDS8Xch1KAc1ZGOX3aAsuY130_assertion description "[Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4244.RAepsLcPQZaUaTeGSy4AruxtDS8Xch1KAc1ZGOX3aAsuY130_provenance.
NP4247.RAZcNc5nE2cCaHFiIHdGlYRY4pac-ANTUn39_7LRkrTRg130_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." NP4247.RAZcNc5nE2cCaHFiIHdGlYRY4pac-ANTUn39_7LRkrTRg130_provenance.
NP4250.RAeijy3xJy1D6o98AMIC3AUeDoh99ZYsT3_vHRVRJAUuU130_assertion description "[Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4250.RAeijy3xJy1D6o98AMIC3AUeDoh99ZYsT3_vHRVRJAUuU130_provenance.
NP4253.RAUY87nPegoDIp94q1ZQRPtvK78GITSwRlysXt6XLz2zA130_assertion description "[Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4253.RAUY87nPegoDIp94q1ZQRPtvK78GITSwRlysXt6XLz2zA130_provenance.
NP4256.RATHHxKHBJspomhc7AjuHryE0Pqmf1AP6ZUdyOWJU239Q130_assertion description "[Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4256.RATHHxKHBJspomhc7AjuHryE0Pqmf1AP6ZUdyOWJU239Q130_provenance.
NP4260.RAVLWkveq7iJt4lKoOcy-igNSiQxx_PvZGXvtgqhGmRJE130_assertion description "[Mutation of the MXI1 gene in prostate cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4260.RAVLWkveq7iJt4lKoOcy-igNSiQxx_PvZGXvtgqhGmRJE130_provenance.
NP4261.RAUMr56-5bsE3sflXr_WEFfSJgQoZcII91Ys6eLyh29hc130_assertion description "[Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4261.RAUMr56-5bsE3sflXr_WEFfSJgQoZcII91Ys6eLyh29hc130_provenance.
NP4264.RAayIOd4FIVy9aLx1qBvNs7aUPsy-Caln4VZfH_9dszqk130_assertion description "[Shared genetic causes of cardiac hypertrophy in children and adults.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4264.RAayIOd4FIVy9aLx1qBvNs7aUPsy-Caln4VZfH_9dszqk130_provenance.
NP4270.RAa2qre6ZdxYRQtW9x3RLGoMJCwhlFXmW9NUVCMxI8D1E130_assertion description "[We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4270.RAa2qre6ZdxYRQtW9x3RLGoMJCwhlFXmW9NUVCMxI8D1E130_provenance.
NP4275.RAbHphavrPUM2dTHY7elds7VvobdEiYlZzoF29nFJf8-E130_assertion description "[Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4275.RAbHphavrPUM2dTHY7elds7VvobdEiYlZzoF29nFJf8-E130_provenance.
NP4276.RAS5deeDNGh-cK70pka3LY8V9jnl0HA81RS3X7TJkQAG0130_assertion description "[Genetic heterogeneity of deafness phenotypes linked to DFNA4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4276.RAS5deeDNGh-cK70pka3LY8V9jnl0HA81RS3X7TJkQAG0130_provenance.
NP4279.RARM9nLd4LuGeqtP5TA1_Ym6RPUtiLzYbv196VhF5VikA130_assertion description "[Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4279.RARM9nLd4LuGeqtP5TA1_Ym6RPUtiLzYbv196VhF5VikA130_provenance.
NP4280.RAVKde9RVgfhi2UzUQN_iQGns8tV8LJwZ_vOeZl66wJPY130_assertion description "[Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4280.RAVKde9RVgfhi2UzUQN_iQGns8tV8LJwZ_vOeZl66wJPY130_provenance.
NP4289.RAd9PeYAvAbrCoNJ98azJQTR6t2KZxzdoxszheGHrvccY130_assertion description "[Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4289.RAd9PeYAvAbrCoNJ98azJQTR6t2KZxzdoxszheGHrvccY130_provenance.
NP4291.RAX7Movgt8cWlemW0xfY91-VBP6PgSvggpFJ8TB8nKtxE130_assertion description "[One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4291.RAX7Movgt8cWlemW0xfY91-VBP6PgSvggpFJ8TB8nKtxE130_provenance.
NP4297.RAfdT8Hjtk-br9r4qJSPjTTKArZYTOerjb8SlGdiQx29c130_assertion description "[Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4297.RAfdT8Hjtk-br9r4qJSPjTTKArZYTOerjb8SlGdiQx29c130_provenance.
NP4303.RAfDD34iaYQcaIBF_ecTxGFPredQmPhCeqnEwn7AvFAbM130_assertion description "[Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4303.RAfDD34iaYQcaIBF_ecTxGFPredQmPhCeqnEwn7AvFAbM130_provenance.
NP4318.RAfE66rWIiX4mj3oE_r7ku2yvy9ZHSQyaBE0Zxx45hoao130_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." NP4318.RAfE66rWIiX4mj3oE_r7ku2yvy9ZHSQyaBE0Zxx45hoao130_provenance.
NP4320.RATWP0zK0YNy2Bz1J6mqGnCjvCGlFXsYnTMZBWTJdgw-c130_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." NP4320.RATWP0zK0YNy2Bz1J6mqGnCjvCGlFXsYnTMZBWTJdgw-c130_provenance.
NP4328.RAbNsb8JzYDSMlXAfGPCKuSNQSaF44qwTV_-k5srnS3kQ130_assertion description "[Mutations in MYL2 could be associated with both benign and malignant HCM phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4328.RAbNsb8JzYDSMlXAfGPCKuSNQSaF44qwTV_-k5srnS3kQ130_provenance.
NP4330.RAeQUpjfSCld2L_Ki5lWZMXrw2YUk4salupZcxoA1GBOE130_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." NP4330.RAeQUpjfSCld2L_Ki5lWZMXrw2YUk4salupZcxoA1GBOE130_provenance.
NP4333.RAR3MVn6JXNJJztCNNXh7zdRwo5RXLybwviHeJXsTf0mw130_assertion description "[Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4333.RAR3MVn6JXNJJztCNNXh7zdRwo5RXLybwviHeJXsTf0mw130_provenance.
NP4339.RASmZapvpZKlGDr_uc8HutrG9_hiS4DqtadAvjxXNhxWE130_assertion description "[Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4339.RASmZapvpZKlGDr_uc8HutrG9_hiS4DqtadAvjxXNhxWE130_provenance.
NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion description "[Analysis of the MYO7A gene in patients from 30 USH1 families and sporadic cases identified 32% of disease alleles, with mutation Q821X being the most frequent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
NP4357.RAcjnS46rSK2xTM0smo3m82ogq3QC-hxz7L-Uvb7b3WmY130_assertion description "[Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4357.RAcjnS46rSK2xTM0smo3m82ogq3QC-hxz7L-Uvb7b3WmY130_provenance.
NP4358.RAXWS5bYdA749VRWdSDECdUFc7bDj94HLw7N80UHbYwGU130_assertion description "[Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4358.RAXWS5bYdA749VRWdSDECdUFc7bDj94HLw7N80UHbYwGU130_provenance.
NP4362.RAU0HV9tKBvy1nQa_p4I3Dcc9KWhHwpchTRK4TRbU1ogA130_assertion description "[Myocilin gene implicated in primary congenital glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4362.RAU0HV9tKBvy1nQa_p4I3Dcc9KWhHwpchTRK4TRbU1ogA130_provenance.
NP4366.RAZcEPMm3o1CqqpwOQtJv5EICy_ALKsF82oeTiJn5eDBk130_assertion description "[Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4366.RAZcEPMm3o1CqqpwOQtJv5EICy_ALKsF82oeTiJn5eDBk130_provenance.
NP4367.RAUV8ljLViTgTg53RnXLIvSL82H8NRTIW_MQAFNNggJno130_assertion description "[Founder TIGR/myocilin mutations for glaucoma in the Qubec population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4367.RAUV8ljLViTgTg53RnXLIvSL82H8NRTIW_MQAFNNggJno130_provenance.
NP4369.RASrJlu9XizRlbba6eZRcXkxNQOIyJ65yUwbSFfO-boEI130_assertion description "[Myocilin gene implicated in primary congenital glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4369.RASrJlu9XizRlbba6eZRcXkxNQOIyJ65yUwbSFfO-boEI130_provenance.
NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_assertion description "[1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4372.RASvksl9y01sts9I7LAZ7YXeEIvQVlKcGnVrJ2SlqhEaM130_provenance.
NP4373.RAREvZJHMFfbaHDy-PEtuOQXDnRoSvq9XmbmBovOd77Bo130_assertion description "[A mutation in myotilin causes spheroid body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4373.RAREvZJHMFfbaHDy-PEtuOQXDnRoSvq9XmbmBovOd77Bo130_provenance.
NP4375.RAafsE2t2CSjUlXq-dLwE-B5gsfmmIc1Ql6akj9at8_ks130_assertion description "[Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4375.RAafsE2t2CSjUlXq-dLwE-B5gsfmmIc1Ql6akj9at8_ks130_provenance.
NP4376.RAebXEOV1JY8ApfcXx1EW9pYdlYHo3HpUYwjNC9ZQdFpM130_assertion description "[Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4376.RAebXEOV1JY8ApfcXx1EW9pYdlYHo3HpUYwjNC9ZQdFpM130_provenance.
NP4378.RAUxAgEwzj7oKYGyYtm44RLggvgnvU2-x3OGXa4a7wYks130_assertion description "[A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Mnire's syndrome and without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4378.RAUxAgEwzj7oKYGyYtm44RLggvgnvU2-x3OGXa4a7wYks130_provenance.
NP4382.RAWOJK5c7-Kdd5I8CU-fcWFfNY774tJgXm0CfHeWywgI8130_assertion description "[Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4382.RAWOJK5c7-Kdd5I8CU-fcWFfNY774tJgXm0CfHeWywgI8130_provenance.
NP4389.RAaVuFp13Dq4bg_ybjiy61C53E5T60i_Sz8X1qzfGMYig130_assertion description "[In this study, another three families affected by NAGSD were analyzed for NAGS gene mutations resulting in the identification of three novel missense mutations (C200R [c.598T > C], S410P [c.1228T > C], A518T [c.1552G > A]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4389.RAaVuFp13Dq4bg_ybjiy61C53E5T60i_Sz8X1qzfGMYig130_provenance.
NP4395.RASTC9NqaGpNzIILqEjT6xqp3PPMNJUEBkq3NT8_PNo9o130_assertion description "[Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4395.RASTC9NqaGpNzIILqEjT6xqp3PPMNJUEBkq3NT8_PNo9o130_provenance.
NP4404.RAVr7kx_dOaop19mWJr_XhkmlV_BmjBUOBxzIOcHxF8IY130_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." NP4404.RAVr7kx_dOaop19mWJr_XhkmlV_BmjBUOBxzIOcHxF8IY130_provenance.
NP4405.RAdMIVMA7bBSs1qvyFp_P5pDrXZ9xpyGyXql3gPDjespU130_assertion description "[All patients diagnosed as having Norrie disease had mutations in the NDP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4405.RAdMIVMA7bBSs1qvyFp_P5pDrXZ9xpyGyXql3gPDjespU130_provenance.
NP4412.RAS2KubEMkwOQvdLZYaNxompFLpVtjUHk1m0ecYEj24Ug130_assertion description "[Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4412.RAS2KubEMkwOQvdLZYaNxompFLpVtjUHk1m0ecYEj24Ug130_provenance.
NP4413.RAew9Tb7L6VQvPcZip0hJJijVu7gOdkfidZYQH2cd6GBw130_assertion description "[Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4413.RAew9Tb7L6VQvPcZip0hJJijVu7gOdkfidZYQH2cd6GBw130_provenance.
NP4415.RAb7F7hPRxiJb0qbMn5iQQ1APKzanMgPDRat-enJDUl_0130_assertion description "[Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4415.RAb7F7hPRxiJb0qbMn5iQQ1APKzanMgPDRat-enJDUl_0130_provenance.
NP4420.RAXICEXk0VyrXY9_VLbwIcqSM6By3oF_S1JU9_0AzKhvU130_assertion description "[X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4420.RAXICEXk0VyrXY9_VLbwIcqSM6By3oF_S1JU9_0AzKhvU130_provenance.
NP4421.RAePXZjYWjhKaH_-TRbkwMO9dEKBYJLtAAw7A7dRbnZy0130_assertion description "[Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4421.RAePXZjYWjhKaH_-TRbkwMO9dEKBYJLtAAw7A7dRbnZy0130_provenance.

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