Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, b...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Pratic ò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara Tags: Case report Source Type: research