Genetics of Wilson's disease: a clinical perspective.
نویسندگان
چکیده
Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson's disease by testing for ATP7B mutations, genotype-phenotype correlations are not yet sufficiently established. The non-Wilsonian copper overload syndromes causing cirrhosis in children are another important area for study. The review also identifies further areas for research into the genetics of Wilson's disease in India.
منابع مشابه
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ورودعنوان ژورنال:
- Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
دوره 31 6 شماره
صفحات -
تاریخ انتشار 2012