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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A. E., Frontali, M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918191/
https://ncbi.nlm.nih.gov/pubmed/8198139
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares