Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynami...

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Bibliografiske detaljer
Main Authors: Monrós, E, Moltó, M D, Martínez, F, Cañizares, J, Blanca, J, Vílchez, J J, Prieto, F, de Frutos, R, Palau, F
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715858/
https://ncbi.nlm.nih.gov/pubmed/9245990
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