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Article

A molecular study of congenital erythropoietic porphyria in cattle.

Animal genetics - 1 Apr 2012

Agerholm J S, Thulstrup P W, Bjerrum M J, Bendixen C, Jørgensen C B, Fredholm M

Abstract excerpt

Previous studies have shown that congenital erythropoietic porphyria (CEP) in cattle is caused by an inherited deficiency of the enzyme uroporphyrinogen III synthase (UROS) encoded by the UROS gene. In this study, we have established the pedigree of an extended Holstein family in which the disease is segregating in a manner consistent with autosomal recessive inheritance. Biochemical analyses demonstrated...

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Source

Identifiers

PMID: 22404357
DOI: 10.1111/j.1365-2052.2011.02228.x

Genes

UROS

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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