High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

BACKGROUND: Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical presentation and intensity. Diagnosing this metabolic disor...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Collet, Corinne, Laplanche, Jean-Louis, Page, Justine, Morel, Hélène, Woimant, France, Poujois, Aurélia
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086069/
https://ncbi.nlm.nih.gov/pubmed/30097039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0660-3
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