Article
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
Molecular genetics & genomic medicine - 1 Oct 2020
Woimant France, Poujois Aurelia, Bloch Adrien, Jordi Tabaras, Laplanche Jean-Louis, Morel Hélène, Collet Corinne
Abstract excerpt
BACKGROUND: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro-psychiatric disturbances. This recessive disease is due to mutation in ATP7B, which codes for an ATPase involved in copper-transport across the plasma membrane. Molecular...
Topics
- Adult
- Cells, Cultured
- Child
- Copper-Transporting ATPases
- Female
- Fibroblasts
- Hepatolenticular Degeneration
- Humans
- Introns
- Male
- Mutation
- Pedigree
- RNA Splicing