Article
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
BMC medical genetics - 10 Aug 2018
Collet Corinne, Laplanche Jean-Louis, Page Justine, Morel Hélène, Woimant France, Poujois Aurélia
Abstract excerpt
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 disorder is important as a lifelong treatment, based on the use of copper chelating agents or zinc salts, is more...
Topics
- Alleles
- Brain
- Cohort Studies
- Copper
- Copper-Transporting ATPases
- France
- Hepatolenticular Degeneration
- Heterozygote
- Humans
- Liver
- Mutation