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Article

Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria.

Wiener klinische Wochenschrift - 7 Jul 2000

Cauza E, Ulrich-Pur H, Polli C, Gangl A, Ferenci P

Abstract excerpt

BACKGROUND/AIMS: More than 100 different mutations of the Wilson disease (WD) gene have been reported so far, but only the H1069Q mutation is frequently found in patients of North and East European origin. We wanted to know if there is a connection between the migration pattern in Central Europe and the geographical distribution of this mutation in Austria. METHODS: One hundred and nine patients (91 index...

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PMID: 10944815

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