Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper
deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early …

Wilson's disease (WD), also known as hepatolenticular degeneration, is an autosomal
recessive inherited disorder resulting from abnormal copper metabolism. Reduced copper …

Context: Geographic distribution of ATP7B mutations in different populations. Objective: To
summarise common mutations in the ATP7B gene and graphically illustrate their prevalence …

Wilson disease (WD), an inherited disorder associated with ATP7B gene, has a wide
spectrum of genotypes and phenotypes. In this study, we developed a rapid multiplex PCR …

Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in
ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations …

Wilson's disease is a complicated medical condition caused by the accumulation of copper,
mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the …

Wilson disease (WD) is caused by defects in ATP7B gene due to impairment of normal
function of the copper transporting P-type ATPase. This study describes a comprehensive …

Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the
ATP7B gene, with over 600 mutations described. Identification of mutations has made …

Background Wilson disease is an autosomal recessive disorder of copper metabolism
caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of …

The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-
associated protein (Cas) system continues to evolve, thereby enabling more precise …