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A novel missense mutation (L198R) in the Friedreich's ataxia gene

✍ Scribed by Sahar Al-Mahdawi; Mark Pook; Susan Chamberlain


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
9 KB
Volume
16
Category
Article
ISSN
1059-7794

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Identification of a missense mutation in
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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