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...
Topics
- Base Sequence
- DNA Primers
- Female
- Genotype
- Haplotypes
- Hepatolenticular Degeneration
- Histidine
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational