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

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

Department of Dermatology

Research output: Contribution to journal › Letter › peer-review

4 Citations (Scopus)

Original language	English
Pages (from-to)	470-471
Number of pages	2
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	23
Issue number	4
DOIs	https://doi.org/10.1111/j.1468-3083.2008.02905.x
Publication status	Published - 2009 Apr

All Science Journal Classification (ASJC) codes

Dermatology
Infectious Diseases

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1111/j.1468-3083.2008.02905.x

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Kang, T. W., Oh, S. W., Kim, M. R., Lee, J., & Kim, S. C. (2009). 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. Journal of the European Academy of Dermatology and Venereology, 23(4), 470-471. https://doi.org/10.1111/j.1468-3083.2008.02905.x

@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 Kim, {S. C.}",

year = "2009",

month = apr,

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",

}

Kang, TW, Oh, SW, Kim, MR, Lee, J & Kim, SC 2009, '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', Journal of the European Academy of Dermatology and Venereology, vol. 23, no. 4, pp. 470-471. https://doi.org/10.1111/j.1468-3083.2008.02905.x

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. / Kang, T. W.; Oh, S. W.; Kim, M. R. et al.

In: Journal of the European Academy of Dermatology and Venereology, Vol. 23, No. 4, 04.2009, p. 470-471.

Research output: Contribution to journal › Letter › peer-review

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, S. C.

PY - 2009/4

Y1 - 2009/4

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DO - 10.1111/j.1468-3083.2008.02905.x

M3 - Letter

C2 - 18647208

AN - SCOPUS:62149148435

SN - 0926-9959

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

IS - 4

ER -

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

All Science Journal Classification (ASJC) codes

UN SDGs

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