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, SooChan Kim

Research output: Contribution to journalLetter

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)470-471
Number of pages2
JournalJournal of the European Academy of Dermatology and Venereology
Volume23
Issue number4
DOIs
Publication statusPublished - 2009 Apr 1

Fingerprint

Uroporphyrinogen III Synthetase
Erythropoietic Porphyria
Uroporphyrinogens
Terminator Codon
Nonsense Codon
Missense Mutation
Heterozygote
Exons
Phenotype
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology
  • Infectious Diseases

Cite this

@article{4c15b051d26842f987b87bf41aea3f43,
title = "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",
author = "Kang, {T. W.} and Oh, {S. W.} and Kim, {M. R.} and Js Lee and SooChan Kim",
year = "2009",
month = "4",
day = "1",
doi = "10.1111/j.1468-3083.2008.02905.x",
language = "English",
volume = "23",
pages = "470--471",
journal = "Journal of the European Academy of Dermatology and Venereology",
issn = "0926-9959",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - 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

AU - Kang, T. W.

AU - Oh, S. W.

AU - Kim, M. R.

AU - Lee, Js

AU - Kim, SooChan

PY - 2009/4/1

Y1 - 2009/4/1

UR - http://www.scopus.com/inward/record.url?scp=62149148435&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=62149148435&partnerID=8YFLogxK

U2 - 10.1111/j.1468-3083.2008.02905.x

DO - 10.1111/j.1468-3083.2008.02905.x

M3 - Letter

VL - 23

SP - 470

EP - 471

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

SN - 0926-9959

IS - 4

ER -