Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain Reaction

Abstract excerpt

BACKGROUND: Most known mutations in the gene associated with Wilson disease are rare. Only the His1069Gln mutation is found often in patients of Northern or Eastern European origin. OBJECTIVE: To examine the frequency of the His1069Gln mutation in Austrian patients with Wilson disease and their families by using a new, rapid polymerase chain reaction (PCR) test. DESIGN: Cross-sectional study. SETTING: University...

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