Currently Clinical Views on Genetics of Wilson's Disease.

ABSTRACT:

Objective

The objective of this study was to review the research on clinical genetics of Wilson's disease (WD).

Data sources

We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype.

Study selection

Publications about the ATP7B gene and protein function associated with clinical features were selected.

Results

Wilson's disease, also named hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene ATP7B. Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionaliza

SUBMITTER: Chen C 

PROVIDER: S-EPMC4733722 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature