Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.

Abstract excerpt

BACKGROUND AND AIMS: Wilson's disease (WD), characterized by a disorder of copper metabolism, is an inherited autosomal recessive disease caused by mutations in the ATP7B gene. METHODS: To explore genotype-phenotype correlations in Chinese WD patients and to evaluate the frequency of the ATP7B mutations, we described 77 clinically and biochemically confirmed WD patients and detected mutations in ten WD families...

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