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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715895/
https://ncbi.nlm.nih.gov/pubmed/9311736
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