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

DC Field Value Language
dc.contributor.author김송이-
dc.contributor.author김수찬-
dc.date.accessioned2015-01-06T16:39:31Z-
dc.date.available2015-01-06T16:39:31Z-
dc.date.issued2014-
dc.identifier.issn0385-2407-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/98516-
dc.description.abstractJunctional 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.-
dc.description.statementOfResponsibilityopen-
dc.format.extent322~324-
dc.relation.isPartOfJOURNAL OF DERMATOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHBase Sequence-
dc.subject.MESHCodon, Nonsense-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHEpidermolysis Bullosa, Junctional/genetics*-
dc.subject.MESHEpidermolysis Bullosa, Junctional/pathology-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHInfant, Newborn-
dc.subject.MESHLaminin/genetics*-
dc.subject.MESHMale-
dc.subject.MESHMutagenesis, Insertional-
dc.subject.MESHMutation*-
dc.subject.MESHMutation, Missense-
dc.titleNovel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentYonsei Biomedical Research Center (연세의생명연구원)-
dc.contributor.googleauthorIn Kyung Jeon-
dc.contributor.googleauthorSong-Ee Kim-
dc.contributor.googleauthorSoo-Chan Kim-
dc.identifier.doi10.1111/1346-8138.12413-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00627-
dc.contributor.localIdA00637-
dc.relation.journalcodeJ01372-
dc.identifier.eissn1346-8138-
dc.identifier.pmid24533970-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1111/1346-8138.12413/abstract-
dc.subject.keywordHerlitz-
dc.subject.keywordLAMC2-
dc.subject.keywordepidermolysis bullosa-
dc.subject.keywordjunctional-
dc.subject.keywordnovel mutation-
dc.contributor.alternativeNameKim, Song Ee-
dc.contributor.alternativeNameKim, Soo Chan-
dc.contributor.affiliatedAuthorKim, Song Ee-
dc.contributor.affiliatedAuthorKim, Soo Chan-
dc.rights.accessRightsfree-
dc.citation.volume41-
dc.citation.number4-
dc.citation.startPage322-
dc.citation.endPage324-
dc.identifier.bibliographicCitationJOURNAL OF DERMATOLOGY, Vol.41(4) : 322-324, 2014-
dc.identifier.rimsid57642-
dc.type.rimsART-
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

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