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References

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

Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review. PubMed citation
Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun;117(4):779-95. Review. 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
Fortian A, Castaño D, Ortega G, Laín A, Pons M, Millet O. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. Biochemistry. 2009 Jan 20;48(2):454-61. doi: 10.1021/bi801731q. PubMed citation
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review. PubMed citation
Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med. 2000 Feb;247(2):169-78. Review. PubMed citation
Schubert HL, Raux E, Matthews MA, Phillips JD, Wilson KS, Hill CP, Warren MJ. Structural diversity in metal ion chelation and the structure of uroporphyrinogen III synthase. Biochem Soc Trans. 2002 Aug;30(4):595-600. Review. PubMed citation
Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Br J Haematol. 2002 Jun;117(4):980-7. PubMed citation
Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest. 2001 Mar;107(6):753-62. PubMed citation
To-Figueras J, Badenas C, Mascaró JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria. Blood Cells Mol Dis. 2007 May-Jun;38(3):242-6. Epub 2007 Jan 31. PubMed citation


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