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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
PPOX
gene.
Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review.
PubMed citation
de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. Exp Dermatol. 2005 Jan;14(1):50-5.
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
Maneli MH, Corrigall AV, Klump HH, Davids LM, Kirsch RE, Meissner PN. Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases. Biochim Biophys Acta. 2003 Aug 21;1650(1-2):10-21.
PubMed citation
Morgan RR, Errington R, Elder GH. Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria. Biochem J. 2004 Jan 15;377(Pt 2):281-7.
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