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Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Title
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
Authors
Park M.-H.Woo H.-M.Hong Y.B.Park J.H.Yoon B.R.Park J.-M.Yoo J.H.Koo H.Chae J.-H.Chung K.W.Choi B.-O.Koo S.K.
Ewha Authors
구혜수유정현
SCOPUS Author ID
구혜수scopus; 유정현scopus
Issue Date
2014
Journal Title
Neurogenetics
ISSN
1364-6753JCR Link
Citation
vol. 15, no. 3, pp. 171 - 182
Publisher
Springer Verlag
Indexed
SCIE; SCOPUS WOS scopus
Abstract
C10orf2; Infantile-onset spinocerebellar ataxia (IOSCA); Mitochondria; Myopathy; Neuropathy; Whole exome sequencing (WES)
DOI
10.1007/s10048-014-0405-1
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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