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Article

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.

Molecular medicine (Cambridge, Mass.) - 1 Jan 2011

Bishop David F, Clavero Sonia, Mohandas Narla, Desnick Robert J

Abstract excerpt

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder due to the deficient activity of uroporphyrinogen III synthase (UROS). Knock-in mouse models were generated for the common, hematologically severe human genotype, C73R/C73R, and milder genotypes (C73R/V99L and V99L/V99L). The specific activities of the UROS enzyme in the livers and erythrocytes of these mice averaged approximately 1.2%,...

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Identifiers

PMID: 21365124
DOI: 10.2119/molmed.2010.00258
PMCID: PMC3146604

Genes

UROS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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