Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference39 articles.
1. Friedreich's Ataxia in the South of Italy : A Clinical and Biochemical Survey of 23 Patients
2. Intrafamilial correlation in Friedreich's ataxia
3. Friedreich's ataxia: a descriptive epidemiological study in an Italian population
4. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
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