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Novel compound heterozygous nonsense prx mutations in a korean dejerine-sottas neuropathy family

Title
Novel compound heterozygous nonsense prx mutations in a korean dejerine-sottas neuropathy family
Authors
Choi Y.J.Hyun Y.S.Nam S.H.Koo H.Hong Y.B.Chung K.W.Choi B.-O.
Ewha Authors
구혜수
SCOPUS Author ID
구혜수scopus
Issue Date
2015
Journal Title
Journal of Clinical Neurology (Korea)
ISSN
1738-6586JCR Link
Citation
vol. 11, no. 1, pp. 92 - 96
Publisher
Korean Neurological Association
Indexed
SCIE; SCOPUS; KCI WOS scopus
Abstract
Charcot-Marie-Tooth disease; Dejerine-Sottas neuropathy; Periaxin; Peripheral nerve; Whole-exome sequencing
DOI
10.3988/jcn.2015.11.1.92
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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