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Friedreich's ataxia II. Biochemical studies in cultured cells

✍ Scribed by B. Bertagnolio; G. Uziel; E. Bottacchi; G. Crenna; A. D'Angelo; S. Di Donato

Book ID
105537622
Publisher
Springer Milan
Year
1979
Tongue
English
Weight
377 KB
Volume
1
Category
Article
ISSN
1590-1874

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Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA expansion on one allele and a point mutation on the o