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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1

Authors
 Seung-Tae Lee 
Citation
 ANNALS OF LABORATORY MEDICINE, Vol.44(5) : 383-384, 2024-09 
Journal Title
ANNALS OF LABORATORY MEDICINE
ISSN
 2234-3806 
Issue Date
2024-09
MeSH
Chromosome Mapping ; Humans ; Muscular Dystrophy, Facioscapulohumeral* / diagnosis ; Muscular Dystrophy, Facioscapulohumeral* / genetics ; Mutation
Keywords
Facioscapulohumeral muscular dystrophy ; Optical genome mapping ; Structural variation
Files in This Item:
T992024397.pdf Download
DOI
10.3343/alm.2024.0197
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/202080
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