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Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa

Authors
 In Kyung Jeon  ;  Song-Ee Kim  ;  Soo-Chan Kim 
Citation
 JOURNAL OF DERMATOLOGY, Vol.41(4) : 322-324, 2014 
Journal Title
JOURNAL OF DERMATOLOGY
ISSN
 0385-2407 
Issue Date
2014
MeSH
Base Sequence ; Codon, Nonsense ; DNA Mutational Analysis ; Epidermolysis Bullosa, Junctional/genetics* ; Epidermolysis Bullosa, Junctional/pathology ; Heterozygote ; Humans ; Infant, Newborn ; Laminin/genetics* ; Male ; Mutagenesis, Insertional ; Mutation* ; Mutation, Missense
Keywords
Herlitz ; LAMC2 ; epidermolysis bullosa ; junctional ; novel mutation
Abstract
Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, β3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/1346-8138.12413/abstract
DOI
10.1111/1346-8138.12413
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/22282913/98516
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