Article
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
European journal of human genetics : EJHG - 1 Jan 2000
Duc H H, Hefter H, Stremmel W, Castañeda-Guillot C, Hernández Hernández A, Cox D W, Auburger G
Abstract excerpt
In the present study we examined 33 German and 10 Cuban unrelated Wilson disease (WND) index patients and their relatives. The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation. Six WND gene mutations have not been described previously and involved a splice site at intron 18 (3903 + del1G), a termination...
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