Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Title
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Authors
Keywords
Congenital ataxia, Cerebellar atrophy, Calcium channel, Voltage-dependent, P/Q type, Alpha-1a subunit (CACNA1A), Targeted resequencing
Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 21, Issue 3, Pages 450-456
Publisher
Elsevier BV
Online
2016-11-30
DOI
10.1016/j.ejpn.2016.11.005

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