Sathiji Nageshwaran and Richard Festenstein, (Review article) Front. Neurol., 21 December 2015 doi: 10.3389/fneur.2015.00262
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
Thursday, January 7, 2016
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