Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene
Author:
Publisher
Elsevier BV
Subject
Inorganic Chemistry,Molecular Medicine,Biochemistry
Reference13 articles.
1. Wilson's disease;Gitlin;Gastroenterology,2003
2. The Wilson disease gene: spectrum of mutations and their consequences;Thomas;Nat Genet,1995
3. A practice guideline on Wilson disease;Roberts;Hepatology,2003
4. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions;Petrukhin;Hum Mol Genet,1994
5. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry;Cox;Hum Mutat,2005
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3. First application of next-generation sequencing in four families with Wilson disease in Morocco;Egyptian Journal of Medical Human Genetics;2023-09-16
4. Easy-to-Use Colorimetric Cyanine Probe for the Detection of Cu2+ in Wilson’s Disease;ACS Applied Materials & Interfaces;2018-05-31
5. Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report;BMC Medical Genetics;2018-04-12
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