Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation
Keywords: UROD, uroporphyrinogen decarboxylase; PCT, porphyria cutanea tarda; F-PCT, familial porphyria cutanea tarda; S-PCT, sporadic porphyria cutanea tarda; HEP, hepatoerythropoietic porphyriaPorphyria; Uroporphyrinogen decarboxylase; Mutation analysis; Splicing