Article
Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).
European journal of human genetics : EJHG - 1 Jan 1994
Legius E, Cuppens H, Dierick H, Van Zandt K, Dom R, Fryns J P, Evers-Kiebooms G, Decruyenaere M, Demyttenaere K, Marynen P
Abstract excerpt
Huntington's disease (HD) is an autosomal dominant disorder with choreic movements, psychiatric manifestations and cognitive dysfunction. Recently the IT15 gene on chromosome 4p has been identified containing an unstable and expanded trinucleotide repeat in patients with HD. We report on the char...
Topics
- Adult
- Age of Onset
- Aged
- Base Sequence
- DNA
- DNA Mutational Analysis
- DNA Primers
- Fathers
- Female
- Gene Expression
- Genetic Testing
- Humans
- Huntington Disease
- Male
- Middle Aged
- Molecular Sequence Data
- Mothers
- Mutation