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

T-W Kang; S-W Oh; M-R Kim; JS Lee; S-C Kim

doi:10.1111/j.1468-3083.2008.02905.x

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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

Authors: T-W Kang ; S-W Oh ; M-R Kim ; JS Lee ; S-C Kim

Citation: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, Vol.23(4) : 470-471, 2009

Journal Title: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

ISSN: 0926-9959

Issue Date: 2009

MeSH: Adult ; Codon, Terminator* ; Exons* ; Heterozygote* ; Humans ; Male ; Mutation, Missense* ; Phenotype ; Porphyria, Erythropoietic/enzymology ; Porphyria, Erythropoietic/genetics* ; Porphyria, Erythropoietic/pathology ; Uroporphyrinogen III Synthetase/genetics*

Full Text: http://onlinelibrary.wiley.com/doi/10.1111/j.1468-3083.2008.02905.x/abstract

DOI: 10.1111/j.1468-3083.2008.02905.x

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers

Yonsei Authors: Kim, Soo Chan(김수찬) https://orcid.org/0000-0002-2327-4755

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/105101

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YUHSpace: 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

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