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Mutation detection in an equivocal case of Friedreich’s ataxia

✍ Scribed by Nicholas T Potter; Christopher A Miller; Ilse J Anderson

Book ID
117590727
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
495 KB
Volume
22
Category
Article
ISSN
0887-8994

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Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
✍ Bartolo, Claire; Mendell, Jerry R.; Prior, Thomas W. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

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