The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6-Reference-Cited by-同舟云学术

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

Published:2016-08-10 Issue:1 Volume:7 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Fukuda Yu,Cheong Pak Leng^ORCID,Lynch John,Brighton Cheryl,Frase Sharon,Kargas Vasileios,Rampersaud Evadnie,Wang Yao,Sankaran Vijay G.,Yu Bing^ORCID,Ney Paul A.,Weiss Mitchell J.,Vogel Peter,Bond Peter J.,Ford Robert C.,Trent Ronald J.,Schuetz John D.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms12353.pdf

Reference49 articles.

1. Puy, H., Gouya, L. & Deybach, J. C. Porphyrias. Lancet 375, 924–937 (2010).

2. Balwani, M. & Desnick, R. J. The porphyrias: advances in diagnosis and treatment. Blood 120, 4496–4504 (2012).

3. Lamoril, J. et al. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am. J. Hum. Genet. 68, 1130–1138 (2001).

4. Whatley, S. D. et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am. J. Hum. Genet. 65, 984–994 (1999).

5. Ged, C. et al. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. J. Invest. Dermatol. 123, 589–591 (2004).

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