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Figure 1 | Molecular Medicine

Figure 1

From: Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Figure 1

FECH loss-of-function mutations causing autosomal-recessive EPP. Mutations in black and blue type were previously reported and listed in the Human Gene Mutation Database, release date 29 June 2012. Previously published mutations in blue were those found in the patients of this study. Novel mutations are indicated in red. Asterisks indicate splicing mutations caused by exonic mutations. The gene depicted in the top line shows exonic mutations, and mutations in intronic sequences are shown on the bottom line.

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