Article
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Neurogenetics - 1 Aug 1998
Forrest S M, Knight M, Delatycki M B, Paris D, Williamson R, King J, Yeung L, Nassif N, Nicholson G A
Abstract excerpt
Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport. However, between 1% and 5% of mutations are single base changes in the sequence of the FRDA gene, causing missense, nonsense, or splicing mutations. We describe three new mutations, IVS4nt2...
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