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A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

Title
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Authors
Hong Y.B.Lee J.H.Park J.-M.Choi Y.-R.Hyun Y.S.Yoon B.R.Yoo J.H.Koo H.Jung S.-C.Chung K.W.Choi B.-O.
Ewha Authors
구혜수유정현정성철
SCOPUS Author ID
구혜수scopus; 유정현scopus; 정성철scopus
Issue Date
2013
Journal Title
BMC Medical Genetics
ISSN
1471-2350JCR Link
Citation
vol. 14, no. 1
Indexed
SCIE; SCOPUS WOS scopus
Abstract
Charcot-Marie-Tooth disease (CMT); HADHB; Mitochondrial trifunctional protein (MTP); Whole exome sequencing (WES)
DOI
10.1186/1471-2350-14-125
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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