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References

These sources were used to develop the Genetics Home Reference gene summary on the FECH gene.

Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review. PubMed citation
Bloomer JR, Wang Y, Singhal A, Risheg H. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences. J Pediatr Gastroenterol Nutr. 2006 Jul;43 Suppl 1:S36-40. PubMed citation
Di Pierro E, Moriondo V, Cappellini MD. Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic. Hum Genet. 2004 Jan;114(2):221. PubMed citation
Elder GH. Genetic defects in the porphyrias: types and significance. Clin Dermatol. 1998 Mar-Apr;16(2):225-33. Review. PubMed citation
Entrez Gene
Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14. Epub 2005 Nov 15. PubMed citation
Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002 Jan;30(1):27-8. Epub 2001 Dec 20. PubMed citation
Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb;114(3):256-62. Epub 2003 Dec 11. PubMed citation
Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-Salamanca R, Lecha M. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol. 2007 Sep;143(9):1125-9. PubMed citation
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review. PubMed citation
Rand EB, Bunin N, Cochran W, Ruchelli E, Olthoff KM, Bloomer JR. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics. 2006 Dec;118(6):e1896-9. Epub 2006 Oct 30. PubMed citation
Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab. 2003 Sep-Oct;80(1-2):196-206. PubMed citation
Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med. 2000 Feb;247(2):169-78. Review. PubMed citation


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