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

DC Field Value Language
dc.contributor.author김송이-
dc.contributor.author김수찬-
dc.date.accessioned2015-01-06T16:39:35Z-
dc.date.available2015-01-06T16:39:35Z-
dc.date.issued2014-
dc.identifier.issn0385-2407-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/98518-
dc.description.statementOfResponsibilityopen-
dc.format.extent350~351-
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.MESHCollagen Type VII/deficiency-
dc.subject.MESHCollagen Type VII/genetics*-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHEpidermolysis Bullosa Dystrophica/genetics*-
dc.subject.MESHEpidermolysis Bullosa Dystrophica/metabolism-
dc.subject.MESHEpidermolysis Bullosa Dystrophica/pathology-
dc.subject.MESHGenes, Recessive-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHInfant, Newborn-
dc.subject.MESHMale-
dc.subject.MESHMutation-
dc.subject.MESHRNA Splice Sites-
dc.titleNovel COL7A1 splice site mutation in severe generalized recessive dystrophic 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.doi10.1111/1346-8138.12356-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00627-
dc.contributor.localIdA00637-
dc.relation.journalcodeJ01372-
dc.identifier.eissn1346-8138-
dc.identifier.pmid24533879-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1111/1346-8138.12356/abstract-
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.startPage350-
dc.citation.endPage351-
dc.identifier.bibliographicCitationJOURNAL OF DERMATOLOGY, Vol.41(4) : 350-351, 2014-
dc.identifier.rimsid57643-
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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