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Article

Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.

Blood cells, molecules & diseases - 1 Jan 2000

To-Figueras Jordi, Badenas Celia, Mascaró José M A, Madrigal Irene, Merino Ana, Bastida Pilar, Lecha Mario, Herrero Carmen

Abstract excerpt

Congenital erythropoietic porphyria (CEP) is a rare inborn error of metabolism that results from a deficient activity of uroporphyrinogen III synthase (URO-synthase). We report four Spanish CEP cases studied at a clinical, biochemical and molecular level. The patients harbored missense mutations in the URO-synthase gene showing the following genotypes: C73R/T228M; C73R/P248Q; and P248Q/P248Q (two patients). The...

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PMID: 17270473
DOI: 10.1016/j.bcmd.2006.12.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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