Inherited ataxia caused by spectrin mutations
β Scribed by Jane Bradbury
- Book ID
- 114408251
- Publisher
- The Lancet
- Year
- 2006
- Tongue
- English
- Weight
- 37 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1474-4465
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## Abstract Recently, Ξ²III spectrins have been recognized as ataxia disease genes, with the identification by Ikeda and coβworkers of pathogenic mutations in the __SPTBN2__ gene in three large (and mapped) SCA5 families of American and European origin.^(1)^ With their discovery, the large βLincolnβ
## Abstract We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a fourβnucleotide GAGT deletion at IVS41+(3β6) and a single nucleotide insertion (insT) at IVS24+3. We expressed minigenes harboring the mutations in cell lines to demonstrate exon skipping from the deletion