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

Abstract 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 me...

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Main Authors: Corinne Collet (Author), Jean-Louis Laplanche (Author), Justine Page (Author), Hélène Morel (Author), France Woimant (Author), Aurélia Poujois (Author)
Format: Book
Published: BMC, 2018-08-01T00:00:00Z.
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3rd Floor Main Library

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