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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.
Am J Hum Genet. 2015.
PMID: 26456284
Free PMC article.
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, Otobe R, Watanabe M, Maruyama H, Hashimoto K, Kawakami H.
Morino H, et al.
Mol Brain. 2015 Dec 29;8:89. doi: 10.1186/s13041-015-0180-4.
Mol Brain. 2015.
PMID: 26715324
Free PMC article.
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