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Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria

DC Field Value Language
dc.contributor.author김수찬-
dc.date.accessioned2015-04-24T17:16:56Z-
dc.date.available2015-04-24T17:16:56Z-
dc.date.issued2009-
dc.identifier.issn0926-9959-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/105101-
dc.description.statementOfResponsibilityopen-
dc.format.extent470~471-
dc.relation.isPartOfJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHCodon, Terminator*-
dc.subject.MESHExons*-
dc.subject.MESHHeterozygote*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMutation, Missense*-
dc.subject.MESHPhenotype-
dc.subject.MESHPorphyria, Erythropoietic/enzymology-
dc.subject.MESHPorphyria, Erythropoietic/genetics*-
dc.subject.MESHPorphyria, Erythropoietic/pathology-
dc.subject.MESHUroporphyrinogen III Synthetase/genetics*-
dc.titleCompound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Dermatology (피부과학)-
dc.contributor.googleauthorT-W Kang-
dc.contributor.googleauthorS-W Oh-
dc.contributor.googleauthorM-R Kim-
dc.contributor.googleauthorJS Lee-
dc.contributor.googleauthorS-C Kim-
dc.identifier.doi10.1111/j.1468-3083.2008.02905.x-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00637-
dc.relation.journalcodeJ01783-
dc.identifier.eissn1468-3083-
dc.identifier.pmid18647208-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1111/j.1468-3083.2008.02905.x/abstract-
dc.contributor.alternativeNameKim, Soo Chan-
dc.contributor.affiliatedAuthorKim, Soo Chan-
dc.citation.volume23-
dc.citation.number4-
dc.citation.startPage470-
dc.citation.endPage471-
dc.identifier.bibliographicCitationJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, Vol.23(4) : 470-471, 2009-
dc.identifier.rimsid56747-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
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