Nonconsensus intronic mutations cause episodic ataxia.
Nonconsensus intronic mutations cause episodic ataxia.
复制标题
非共有内含子突变导致阵发性共济失调。
DOI：
10.1002/ana.20343
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Jen,JoannaC
中科院分区：
文献类型：
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作者：
Wan,Jijun;Carr,JanaiR;Baloh,RobertW;Jen,JoannaC
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 mutation and the activation of a cryptic splice donor site from the insertion mutation. The identification of these disease‐causing mutations expands the spectrum of EA2 mutations and emphasizes the importance of intronic sequences in regulating gene expression. Ann Neurol 2005;57:131–135
