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Four novel mutations of the coproporphyrinogen III oxidase gene.

Cellular and molecular biology (Noisy-le-Grand, France) - 16 Feb 2009

Aurizi C, Lupia Palmieri G, Barbieri L, Macrì A, Sorge F, Usai G, Biolcati G

Abstract excerpt

Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). Three of the novel genetic variants are missense mutations (p.Gly242Cys; p.Leu398Pro; p.Ser245Phe) and one is a frameshift mutation (p.Gly188TrpfsX45).

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Source

Identifiers

PMID: 19267996

Genes

CPO

Variants

Provenance

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

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