A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
Méndez
M
M
Research Center, Hospital Universitario 12 de Octubre, Madrid, Spain.
Poblete-Gutiérrez
P
P
Morán-Jiménez
M-J
MJ
Rodriguez
M-E
ME
Garrido-Astray
M-C
MC
Fontanellas
A
A
Frank
J
J
de Salamanca
R E
RE
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*
D005294:Ferrochelatase