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

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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) https://orcid.org/0000-0002-2327-4755

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/98518

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