Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis
Author:
Publisher
Elsevier BV
Subject
Inorganic Chemistry,Molecular Medicine,Biochemistry
Reference27 articles.
1. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993
2. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene;Tanzi;Nat Genet,1993
3. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry;Cox;Hum Mut,2005
4. Analysis of the human Atox1 homologue in Wilson patients;Simon;World J Gastroenterol,2008
5. A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson disease;Gupta;Behavioral and Brain Functions,2010
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