Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family
✍ Scribed by F. R. Kreuz; Thomas Grünewald; Angela Müller; Heinz Reichmann; Christine Zühlke
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 54 KB
- Volume
- 246
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
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An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d
The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations. The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats. The CA