Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations
✍ Scribed by Hedrich, K; Hoeltzenbein, M; Konstanzer, A; Hellenbroich, Y; Schwinger, E; Zühlke, C H; Dalski, A; Habeck, M; Straube, K
- Book ID
- 110025662
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 79 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1018-4813
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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
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