Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia

Published 2019 View Full Article

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Title
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia
Authors
Keywords
Spinocerebellar ataxia, ERCC8, Homozygosity mapping, Whole exome sequencing, Cockayne syndrome type A
Journal
CLINICA CHIMICA ACTA
Volume 494, Issue -, Pages 64-70
Publisher
Elsevier BV
Online
2019-03-12
DOI
10.1016/j.cca.2019.03.1609

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