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

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

Book ID
117855078
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
263 KB
Volume
61
Category
Article
ISSN
0002-9297

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Mutational analysis of ATP7B and genotyp
Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease
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The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq