Article
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Molecular genetics and metabolism - 1 Apr 2007
Aurizi Caterina, Schneider-Yin Xiaoye, Sorge Fiammetta, Macrì Annelisa, Minder Elisabeth I, Biolcati Gianfranco
Abstract excerpt
Mutations and a low-expressed allele IVS3-48c (in trans to the mutation) of the ferrochelatase (FECH) gene are responsible for erythropoietic protoporphyria (EPP) which is characterized clinically by cutaneous photosensitivity. In this study of 15 Italian EPP families, we identified 10 different FECH gene mutations, six of them were novel mutations (Q32X; IVS2-2, a-->g; IVS3-67, g-->a; 488-501del 14bp; IVS5-3,...
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