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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.
- Issue Date
- 2013
- Journal Title
- BMC Medical Genetics
- ISSN
- 1471-2350
- Citation
- BMC Medical Genetics vol. 14, no. 1
- Document Type
- Article
- Abstract
- Charcot-Marie-Tooth disease (CMT); HADHB; Mitochondrial trifunctional protein (MTP); Whole exome sequencing (WES)
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
- Files in This Item:
- 001.pdf(1.75 MB) Download
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