A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient

出版年份 2016 全文链接

标题

作者

关键词

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS), Inherited peripheral neuropathy (IPN), Nonsense mutation, Deletion

出版物

Volume 362, Issue -, Pages 111-114

出版商

Elsevier BV

发表日期

2016-01-19

DOI

10.1016/j.jns.2016.01.026

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