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Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1

Authors
 Jae Yong Sung  ;  Se-Woong Oh  ;  Song Ee Kim  ;  Soo-Chan Kim 
Citation
 JOURNAL OF DERMATOLOGICAL SCIENCE, Vol.70(3) : 220-222, 2013 
Journal Title
JOURNAL OF DERMATOLOGICAL SCIENCE
ISSN
 0923-1811 
Issue Date
2013
MeSH
Adolescent ; DNA Mutational Analysis ; Diagnosis, Differential ; Genetic Predisposition to Disease ; Humans ; Hyperkeratosis, Epidermolytic/genetics* ; Hyperkeratosis, Epidermolytic/pathology ; Ichthyosis Bullosa of Siemens/diagnosis* ; Ichthyosis Bullosa of Siemens/genetics ; Ichthyosis Bullosa of Siemens/pathology ; Keratin-1/genetics* ; Male ; Mutation* ; Phenotype ; Predictive Value of Tests ; Protein Structure, Tertiary ; Severity of Illness Index ; Skin/pathology
Keywords
Epidermolytic hyperkeratosis ; Mild phenotype ; Keratin 1 gene
Full Text
http://www.sciencedirect.com/science/article/pii/S0923181113000686
DOI
10.1016/j.jdermsci.2013.03.001
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/22282913/87805
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