Common mutations of ATP7B in Wilson disease patients from Hungary
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference33 articles.
1. Copper distribution among serum proteins in pediatric liver disorders and malignancies;Barrow;Eur J Clin Invest,1988
2. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes disease gene;Bull;Nat Genet,1993
3. Molecular diagnosis of Wilson's disease;Butler;Mol Genet,2001
4. High prevalence of the H1069Q mutation in East German patients with Wilson disease. Rapid detection of mutations by limited sequencing and phenotype-genotype analysis;Caca;J Hepatol,2001
5. A study of Wilson disease mutations in Britain;Curtis;Hum Mutat,1999
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