Back to Search
Start Over
Intermediate repeat expansions of TBPand STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
- Source :
- Genetics in Medicine; February 2023, Vol. 25 Issue: 2
- Publication Year :
- 2023
-
Abstract
- CAG/CAA repeat expansions in TBP>49are responsible for spinocerebellar ataxia (SCA) type 17 (SCA17). We previously detected cosegregation of STUB1variants causing SCA48 with intermediate alleles of TBPin 2 families. This cosegregation questions the existence of SCA48 as a monogenic disease.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs61528280
- Full Text :
- https://doi.org/10.1016/j.gim.2022.10.009