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Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa

Authors
 In Kyung Jeon  ;  Song-Ee Kim  ;  Soo-Chan Kim 
Citation
 JOURNAL OF DERMATOLOGY, Vol.41(4) : 350-351, 2014 
Journal Title
JOURNAL OF DERMATOLOGY
ISSN
 0385-2407 
Issue Date
2014
MeSH
Base Sequence ; Codon, Nonsense ; Collagen Type VII/deficiency ; Collagen Type VII/genetics* ; DNA Mutational Analysis ; Epidermolysis Bullosa Dystrophica/genetics* ; Epidermolysis Bullosa Dystrophica/metabolism ; Epidermolysis Bullosa Dystrophica/pathology ; Genes, Recessive ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation ; RNA Splice Sites
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/1346-8138.12356/abstract
DOI
10.1111/1346-8138.12356
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
Kim, Song Ee(김송이)
Kim, Soo Chan(김수찬) ORCID logo https://orcid.org/0000-0002-2327-4755
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/98518
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