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Clinical Characteristics of an Afrikaner Founder Population Recruited for a Schizophrenia Genetic Study

โœ Scribed by Johannes Lodewikus Roos; Herman Walter Pretorius; Maria Karayiorgou

Book ID
111398391
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
199 KB
Volume
1151
Category
Article
ISSN
0890-6564

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Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta