Article
[Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir].
Genetika - 1 Jul 2000
Karunas A S, Mersiianova I V, Poliakov A V, Evgrafov O V, Khusnutdinova E K
Abstract excerpt
Mutations of the Wilson disease (WD) gene were studied in patients from Bashkortostan. Four mutations were identified: His1069Gln, 3402delC, Glu1064Lys, and 3559 + 1G-->T. The latter mutation was described for the first time. Mutation His1069Gln was found to be the most prevalent in Bashkortostan; its frequency was 43.5%. The associations of the mutations found with the haplotypes for polymorphic loci D13S316,...
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