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

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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) https://orcid.org/0000-0001-8627-486X
Kim, Soo Chan(김수찬) https://orcid.org/0000-0002-2327-4755

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/86352

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