Article
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
Annals of neurology - 1 Apr 1996
Goldfarb L G, Vasconcelos O, Platonov F A, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev V A, Alexeev V P, Gajdusek D C
Abstract excerpt
A Siberian kindred with spinocerebellar ataxia genetically linked to the SCA1 locus on chromosome 6p has been screened for the CAG triplet expansion within the coding region of the SCA1 gene. The kindred includes 1,484 individuals, 225 affected and 656 at risk, making this collection the largest...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Alleles
- Base Sequence
- Chromosome Mapping
- Female
- Genetic Variation
- Homozygote
- Humans
- Male
- Molecular Probes
- Molecular Sequence Data
- Nervous System Diseases
- Phenotype
- Reference Values
- Siberia