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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2001-6-14
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pubmed:abstractText |
The defective gene (ATP7B) that causes Wilson disease (WD) codes for a putative copper-transporting P-type adenosine triphosphatase. After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations. However, the spectrum of mutations and the correlation of genotype-phenotype in the Chinese population have not been extensively studied.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
971-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11405812-Adolescent,
pubmed-meshheading:11405812-Adult,
pubmed-meshheading:11405812-Arginine,
pubmed-meshheading:11405812-Chi-Square Distribution,
pubmed-meshheading:11405812-Child,
pubmed-meshheading:11405812-China,
pubmed-meshheading:11405812-Exons,
pubmed-meshheading:11405812-Female,
pubmed-meshheading:11405812-Genotype,
pubmed-meshheading:11405812-Hepatolenticular Degeneration,
pubmed-meshheading:11405812-Humans,
pubmed-meshheading:11405812-Leucine,
pubmed-meshheading:11405812-Male,
pubmed-meshheading:11405812-Phenotype,
pubmed-meshheading:11405812-Point Mutation,
pubmed-meshheading:11405812-Polymorphism, Genetic
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pubmed:year |
2001
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pubmed:articleTitle |
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
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pubmed:affiliation |
Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Rd, Fuzhou 350005, People's Republic of China. zhiyingwu67@yahoo.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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