Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase. A search for ATP7...

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Библиографические подробности
Главные авторы: Shah, A B, Chernov, I, Zhang, H T, Ross, B M, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenskaya, I A, Annerén, G, Westermark, K, Urrutia, F H, Penchaszadeh, G K, Sternlieb, I, Scheinberg, I H, Gilliam, T C, Petrukhin, K
Формат: Artigo
Язык:Inglês
Опубликовано: 1997
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715895/
https://ncbi.nlm.nih.gov/pubmed/9311736
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