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Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

Authors
 Sang Hee Lee  ;  Song-Ee Kim  ;  Eun Bee Noh  ;  Se-Woong Oh  ;  Soo-Chan Kim 
Citation
 JOURNAL OF DERMATOLOGY, Vol.40(1) : 59-61, 2013 
Journal Title
 JOURNAL OF DERMATOLOGY 
ISSN
 0385-2407 
Issue Date
2013
MeSH
Collagen Type VII/genetics* ; Epidermolysis Bullosa Dystrophica/genetics* ; Epidermolysis Bullosa Dystrophica/pathology ; Female ; Humans ; Infant, Newborn ; Polymerase Chain Reaction ; Sequence Deletion/genetics*
Keywords
Collagen Type VII/genetics* ; Epidermolysis Bullosa Dystrophica/genetics* ; Epidermolysis Bullosa Dystrophica/pathology ; Female ; Humans ; Infant, Newborn ; Polymerase Chain Reaction ; Sequence Deletion/genetics*
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1346-8138.2012.01666.x/abstract
DOI
10.1111/j.1346-8138.2012.01666.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Song Yee(김송이) ORCID logo https://orcid.org/0000-0001-8627-486X
Kim, Soo Chan(김수찬) ORCID logo https://orcid.org/0000-0002-2327-4755
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/86352
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