title: A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
authors.affiliation: Research Center, Hospital Universitario 12 de Octubre, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Méndez
authors.forename: P
authors.initials: P
authors.lastname: Poblete-Gutiérrez
authors.forename: M-J
authors.initials: MJ
authors.lastname: Morán-Jiménez
authors.forename: M-E
authors.initials: ME
authors.lastname: Rodriguez
authors.forename: M-C
authors.initials: MC
authors.lastname: Garrido-Astray
authors.forename: A
authors.initials: A
authors.lastname: Fontanellas
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: R E
authors.initials: RE
authors.lastname: de Salamanca
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D005294:Ferrochelatase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D046351:Protoporphyria, Erythropoietic / Q000150:complications / Q000201:enzymology / Q000235:genetics*
chemical_list: D005294:Ferrochelatase