The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
Article Abstract:
A GAA triplet-repeat expansion in the first intron of the X25 gene is associated with Friedreich ataxia. The GAA triplet-repeat expansion may produce an unusual, but stable, structure of DNA that hampers transcription and thus causes a lack of frataxin at the cellular level. RNase protection assays show a lack of mature X25 mRNA in patients homozygous for the GAA triplet expansion.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Functional and structural brain abnormalities associated with a genetic disorder of speech and language
Article Abstract:
Researchers describe an English family in which half the members of three generations have a severe speech and language disorder. The gene mutation appears to affect the development of the caudate nucleus, causing bilateral structural and functional abnormalities.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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