Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded...

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Auteurs principaux: Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A. E., Frontali, M.
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918191/
https://ncbi.nlm.nih.gov/pubmed/8198139
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