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Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

DC Field Value Language
dc.contributor.author김수찬-
dc.date.accessioned2015-07-15T16:41:43Z-
dc.date.available2015-07-15T16:41:43Z-
dc.date.issued2003-
dc.identifier.issn0923-1811-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/113412-
dc.description.statementOfResponsibilityopen-
dc.format.extent180~183-
dc.relation.isPartOfJOURNAL OF DERMATOLOGICAL SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAmino Acid Substitution/genetics*-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHCodon, Terminator/genetics*-
dc.subject.MESHCollagen Type VII/genetics*-
dc.subject.MESHEpidermolysis Bullosa Dystrophica/genetics*-
dc.subject.MESHGenes, Recessive*-
dc.subject.MESHGlycine/genetics*-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHPoint Mutation*-
dc.subject.MESHSiblings-
dc.titleCompound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Dermatology (피부과학)-
dc.contributor.googleauthorJooyoung Kim-
dc.contributor.googleauthorSoo-Chan Kim-
dc.contributor.googleauthorHiroshi Shimizu-
dc.contributor.googleauthorKana Yasukawa-
dc.identifier.doi10.1016/j.jdermsci.2003.08.007-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00637-
dc.relation.journalcodeJ01370-
dc.identifier.eissn1873-569X-
dc.identifier.pmid14643524-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0923181103002019-
dc.subject.keyword14643524-
dc.contributor.alternativeNameKim, Soo Chan-
dc.contributor.affiliatedAuthorKim, Soo Chan-
dc.rights.accessRightsnot free-
dc.citation.volume33-
dc.citation.number3-
dc.citation.startPage180-
dc.citation.endPage183-
dc.identifier.bibliographicCitationJOURNAL OF DERMATOLOGICAL SCIENCE, Vol.33(3) : 180-183, 2003-
dc.identifier.rimsid49242-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
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