About: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease

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About: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2000

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rdf:type	Item
description	wetenschappelijk artikel (nl) wüsseschaftlicher Artikel, wo im Johr 2000 veröffentlicht worden isch (gsw) наукова стаття, опублікована в січні 2000 (uk) im Jahr 2000 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2000 (ast) artikull shkencor i botuar më 01 janar 2000 (sq) scientific article published on 01 January 2000 (en)
publication date	wds:Q73734726-6F9619F8-4463-4E18-98E2-5CCEFA08DC88
publication date	2000-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q73734726-0C89D660-B8E3-4728-A5CF-E908CC253793 wds:Q73734726-2B52BF25-BED5-442E-A285-C9F36107F18A wds:Q73734726-2FCD1EDB-C6E4-429E-9FA0-1209D925F361 wds:Q73734726-611D6944-08EA-423C-BC7C-603DE2DEC4A3 wds:Q73734726-61293B24-50AF-43C8-A5A6-2167222FA68E wds:Q73734726-6940CB12-C666-4C7B-AF81-618514FC0A69 wds:Q73734726-896CDEE8-C491-4A70-AD4B-741D0C2AD349 wds:Q73734726-A0894A09-DE68-4DA6-A163-8929068921BF wds:Q73734726-B2430697-D61D-45EF-99F6-697731C85FF1 wds:Q73734726-CD37A468-3076-4DC9-AF24-88705A220490 wds:Q73734726-FF66D98D-85C0-4FD1-BA43-192082CF7904
author name string	A Suzuki H Hayashi T Okada T Sawada H Satoh M Yano Y Takeda H Mabuchi M Onji K Michitaka Y Shiono
rdfs:label	Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (en) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (nl)
skos:prefLabel	Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (en) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (nl)
name	Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (en) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (nl)
title	wds:Q73734726-CCF06E61-7991-430B-BD5C-276FCE772457
title	Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease (en)
page(s)	wds:Q73734726-3D51EBCF-D8BC-49B5-BAE1-CAE3B5720630
page(s)	454-462
instance of	wds:Q73734726-AB56FC06-42C8-4D9F-AE8C-991C07EEE6E2
instance of	scholarly article
main subject	wds:Q73734726-33365782-C9BF-4CBE-8141-D09A88CAEE0A wds:Q73734726-8123E5A6-D823-45A2-9278-8559D891A644 wds:Q73734726-F8FF7FD6-139D-4BFC-BFB4-CB3FF2B6BFE3
main subject	phenotype mutational analysis genotype-phenotype correlation
PubMed ID	wds:Q73734726-EE17144E-5896-4B85-9C82-D19FC08DACBF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10790207
PubMed ID	10790207
published in	wds:Q73734726-E7FE4A7F-04C7-46E6-8F56-FE63C5CF2AE6
published in	Human Mutation
issue	wds:Q73734726-633B040A-1044-4AAD-B7B1-B78297B49E0A
volume	wds:Q73734726-C94A6ECE-450A-4BE1-85F1-A900B60F3236
issue	5
volume	15
DOI	wds:Q73734726-A01A0D46-EE2D-4925-95D9-0737B50FF96B
DOI	http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5%3C454::AID-HUMU7%3E3.0.CO;2-J
DOI	10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73734726
is cites work of	Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study Compound overload of copper and iron in patients with Wilson's disease Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. Wilson's disease: a comprehensive review of the molecular mechanisms Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach Mutational analysis of ATP7B in north Chinese patients with Wilson disease Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation The genetics of Wilson disease High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset. Liver transplantation for Wilson disease Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease. Coexisting Parkinson's and Wilson's Disease: Chance or Connection? Genetics and epigenetic factors of Wilson disease Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease The Pragmatic Treatment of Wilson's Disease Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease. Wilson disease associated with immune thrombocytopenia: A case report and review of the literature Identification of two novel mutations in the ATP7B gene that cause Wilson's disease Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
is cites work of	wds:Q36602678-235553DF-4C9E-414D-82CA-42F6AB6CB3DF wds:Q58235870-B0025079-9F21-4795-8431-4AB676729026 wds:Q24679692-22E9945C-B534-48A4-B8EC-21273EBAE321 wds:Q24647056-35C2A795-010C-454F-BF21-2A7BA52F3D8C wds:Q48542680-963EDB4A-BC7E-4754-9A4F-989F7B717D97 wds:Q48216192-79059AD0-BB89-427A-9D61-A8B73DA4BE55

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