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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
- Source :
- Science, 271 (5254
- Publication Year :
- 1996
-
Abstract
- Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.<br />Journal Article<br />Research Support, Non-U.S. Gov't<br />Research Support, U.S. Gov't, P.H.S.<br />info:eu-repo/semantics/published
Details
- Database :
- OAIster
- Journal :
- Science, 271 (5254
- Notes :
- No full-text files, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1363714877
- Document Type :
- Electronic Resource