Congenital erythropoietic porphyria, description of a new mutation in two brothers.
Moruno Tirado
A
A
Herrera Saval
A
A
Martinez Montero
E
E
Hernandez Hazanas
F
F
Ceballos Aragon
J
J
Ged
C
C
de Verneuil
H
H
D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016297:Mutagenesis, Site-Directed; D017092:Porphyria, Erythropoietic / Q000235:genetics*; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
D014576:Uroporphyrinogen III Synthetase