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Inherited ataxia caused by spectrin mutations

✍ 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 We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four‐nucleotide GAGT deletion at IVS41+(3–6) 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