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Correlation Between Genotype and Phenotype in Hereditary Hemochromatosis: Analysis of 61 Cases

✍ Scribed by Ronald L. Sham; Chin-Yih Ou; Joseph Cappuccio; Caroline Braggins; Karin Dunnigan; Pradyumna D. Phatak


Book ID
115589893
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
64 KB
Volume
23
Category
Article
ISSN
1079-9796

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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