Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference30 articles.
1. Friedreich's ataxia: a clinical and genetics study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features;Harding;Brain,1981
2. (Updated 9 December 2002).Friedreichataxia;Bidichandani,2002
3. Clinical and genetic abnormalities in patients with Friedreich's ataxia;Dürr;N. Engl. J. Med.,1996
4. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
5. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and permutations;Cossée;Proc. Natl. Acad. Sci. USA,1997
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