Article
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
Digestive diseases and sciences - 1 Oct 2007
Leggio Lorenzo, Malandrino Noemi, Loudianos Georgios, Abenavoli Ludovico, Lepori Maria Barbara, Capristo Esmeralda, De Virgiliis Stefano, Gasbarrini Giovanni, Addolorato Giovanni
Abstract excerpt
Wilson disease, an autosomal recessive disorder due to mutations of the ATP7B gene, is characterized by copper accumulation and toxicity in the liver and subsequently in other organs, mainly the brain and cornea. A new missense mutation (T1288R) of the ATP7B gene has recently been discovered in a Wilson disease patient in our laboratory. The aim of the present study was to analyze clinical and genetic features of...
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