Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses-Reference-Cited by-同舟云学术

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Published:1997-08 Issue:2 Volume:61 Page:317-328
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Shah Anjali B.,Chernov Igor,Zhang Hong Tao,Ross Barbara M.,Das Kamna,Lutsenko Svetlana,Parano Enrico,Pavone Lorenzo,Evgrafov Oleg,Ivanova-Smolenskaya Irina A.,Annerén Göran,Westermark Kerstin,Urrutia Francisco Hevia,Penchaszadeh Graciela K.,Sternlieb Irmin,Scheinberg I. Herbert,Gilliam T. Conrad,Petrukhin Konstantin

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Structure-function of cation translocation by Ca(2 +)- and Na +, K + - ATPases studied by site directed mutagenesis;Andersen;FEBS Lett,1995

2. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993

3. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelley;Nat Genet,1993

4. Functional consequences of alterations to amino acids located in the nucleotide binding domain of the Ca2+-ATPase of sarcoplasmic reticulum;Clarke;J Biol Chem,1990

5. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse;Das;Am J Hum Genet,1995

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