title: Four novel mutations of the coproporphyrinogen III oxidase gene.
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).
authors.affiliation: Porphyria and Hereditary Metabolic Diseases Center San Gallicano Institute, I.F.O., IRCCS Rome Italy. aurizi@commat.ifo.it
authors.forename: C
authors.initials: C
authors.lastname: Aurizi
authors.forename: G
authors.initials: G
authors.lastname: Lupia Palmieri
authors.forename: L
authors.initials: L
authors.lastname: Barbieri
authors.forename: A
authors.initials: A
authors.lastname: Macrì
authors.forename: F
authors.initials: F
authors.lastname: Sorge
authors.forename: G
authors.initials: G
authors.lastname: Usai
authors.forename: G
authors.initials: G
authors.lastname: Biolcati
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D046349:Coproporphyria, Hereditary / Q000235:genetics*; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D003304:Coproporphyrinogen Oxidase