Four novel mutations of the coproporphyrinogen III oxidase gene

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

doi:10.1170/T832

Four novel mutations of the coproporphyrinogen III oxidase gene

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

Istituto S. Maria e S. Gallicano

Research output: Contribution to journal › Article › peer-review

Abstract

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).

Original language	English
Pages (from-to)	15-18
Number of pages	4
Journal	Cellular and Molecular Biology
Volume	55
Issue number	1
DOIs	https://doi.org/10.1170/T832
Publication status	Published - 2009

Keywords

Coproporphyrinogen III oxidase
Coproporphyrins
Hereditary coproporphyria

ASJC Scopus subject areas

Molecular Biology
Cell Biology
Biochemistry

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10.1170/T832

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abstract = "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).",

keywords = "Coproporphyrinogen III oxidase, Coproporphyrins, Hereditary coproporphyria",

author = "C. Aurizi and {Lupia Palmieri}, G. and L. Barbieri and A. Macr{\`i} and F. Sorge and G. Usai and G. Biolcati",

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AU - Aurizi, C.

AU - Lupia Palmieri, G.

AU - Barbieri, L.

AU - Macrì, A.

AU - Sorge, F.

AU - Usai, G.

AU - Biolcati, G.

PY - 2009

Y1 - 2009

N2 - 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).

AB - 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).

KW - Coproporphyrinogen III oxidase

KW - Coproporphyrins

KW - Hereditary coproporphyria

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Four novel mutations of the coproporphyrinogen III oxidase gene

Abstract

Keywords

ASJC Scopus subject areas

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