Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review
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Erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cas... ...
