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Article

Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

Molecular biology reports - 1 Jun 2012

Moghbeli Meysam, Maleknejad Mahmood, Arabi Azadeh, Abbaszadegan Mohammad Reza

Abstract excerpt

Porphyrias are rare metabolic hereditary diseases originating from defects in specific enzymes involved in the heme biosynthesis pathway. Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase (UROS), the fourth enzyme in heme biosynthesis. CEP leads to an excessive production and accumulation of type Ι porphyrins in...

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Identifiers

PMID: 22350154
DOI: 10.1007/s11033-012-1497-z

Genes

UROS

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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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