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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
UROD
gene.
Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review.
PubMed citation
Christiansen L, Brøns-Poulsen J, Hørder M, Brock A, Petersen NE. Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations. Scand J Clin Lab Invest. 2005;65(3):227-35.
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
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review.
PubMed citation
Mendez M, Rossetti MV, De Siervi A, del Carmen Batlle AM, Parera V. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. Hum Mutat. 2000 Sep;16(3):269-70.
PubMed citation
Mukerji SK. Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake. Indian J Exp Biol. 2000 Jul;38(7):635-42. 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
Reviewed: July 2009
Published: May 13, 2013