The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
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چکیده
منابع مشابه
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.
Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to the SCA1 locus on chromosome 6. Most of the families were too small for linkage analysis. The mutation was only found in ADCA type I, in 19 out of 38 such kindreds investigated ...
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The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation. The identification of the SCA2 mutation in 31 out of 38 fami...
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Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
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ژورنال
عنوان ژورنال: Brain
سال: 1994
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/117.4.645