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

• Glavni autori: Corinne Collet (Autor), Jean-Louis Laplanche (Autor), Justine Page (Autor), Hélène Morel (Autor), France Woimant (Autor), Aurélia Poujois (Autor)
• Format: Knjiga
• Izdano: BMC, 2018-08-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...