Article
The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
Journal of gastrointestinal and liver diseases : JGLD - 1 Jun 2012
Iacob Razvan, Iacob Speranta, Nastase Anca, Vagu Codruta, Ene Ana Maria, Constantinescu Alexandrina, Anghel Daniela, Banica Constanta, Paslaru Liliana, Coriu Daniel, Dima Simona, Gheorghe Cristian, Ionica Elena, Gheorghe Liana
Abstract excerpt
BACKGROUND AND AIM: Wilson's disease (WD) is a rare autosomal recessive disease. More than 500 mutations have been described so far, out of which 29 in exon 14. H1069Q mutation in the exon 14 of ATP7B gene is the most frequently encountered in Europe. The aim of the present study was to evaluate the incidence of mutations occurring in exon 14 of ATP7B gene in Romanian patients referred to a tertiary...
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