DSpace at EWHA: A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

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DC Field	Value	Language
dc.contributor.author	구혜수	*
dc.contributor.author	유정현	*
dc.contributor.author	정성철	*
dc.date.accessioned	2016-08-28T11:08:20Z	-
dc.date.available	2016-08-28T11:08:20Z	-
dc.date.issued	2013	*
dc.identifier.issn	1471-2350	*
dc.identifier.other	OAK-10818	*
dc.identifier.uri	https://dspace.ewha.ac.kr/handle/2015.oak/227336	-
dc.description.abstract	Charcot-Marie-Tooth disease (CMT); HADHB; Mitochondrial trifunctional protein (MTP); Whole exome sequencing (WES)	*
dc.language	English	*
dc.title	A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease	*
dc.type	Article	*
dc.relation.issue	1	*
dc.relation.volume	14	*
dc.relation.index	SCIE	*
dc.relation.index	SCOPUS	*
dc.relation.journaltitle	BMC Medical Genetics	*
dc.identifier.doi	10.1186/1471-2350-14-125	*
dc.identifier.wosid	WOS:000328506000001	*
dc.identifier.scopusid	2-s2.0-84890117140	*
dc.author.google	Hong Y.B.	*
dc.author.google	Lee J.H.	*
dc.author.google	Park J.-M.	*
dc.author.google	Choi Y.-R.	*
dc.author.google	Hyun Y.S.	*
dc.author.google	Yoon B.R.	*
dc.author.google	Yoo J.H.	*
dc.author.google	Koo H.	*
dc.author.google	Jung S.-C.	*
dc.author.google	Chung K.W.	*
dc.author.google	Choi B.-O.	*
dc.contributor.scopusid	구혜수(7102121023;57217717081;56612832400)	*
dc.contributor.scopusid	유정현(35239103600)	*
dc.contributor.scopusid	정성철(57008539100)	*
dc.date.modifydate	20240422114306	*