A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Publisher: Karger
E-ISSN: 1424-859x|152|1|16-21
ISSN: 1424-8581
Source: Cytogenetic and Genome Research, Vol.152, Iss.1, 2017-06, pp. : 16-21
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Abstract