The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.

doi:10.1093/brain/117.4.645

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Article

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.

Brain : a journal of neurology - 1 Aug 1994

Giunti P, Sweeney M G, Spadaro M, Jodice C, Novelletto A, Malaspina P, Frontali M, Harding A E

Abstract excerpt

Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to the SCA1 locus on chromosome 6. Most of the families were too small for linka...

Topics

Adolescent
Adult
Base Sequence
Cerebellar Ataxia
Child
Chromosomes, Human, Pair 6
DNA
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Repetitive Sequences, Nucleic Acid

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