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Figure 2 | Molecular Medicine

Figure 2

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 2

Large FECH deletions and complex deletion/insertion rearrangements causing EPP. The Human Gene Mutation Database (HGMD) accession numbers are provided, and the extent of the deletion is listed to the right of each deleted region. In parentheses, the number of patients previously reported with the deletion is followed by the number of patients with the deletion in the present study. Novel mutations are those with only one incidence in this study. Question marks indicate the unknown positions of the breakpoints. Alu sequences and their orientations are indicated with open arrows. The published breakpoints have been mapped to the FECH sequence provided in GenBank accession number NG_008175 from the February 2009 HG-19 human genome assembly. HGMD accession numbers for mutations with identical breakpoints have been listed together with the respective deletion region.

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Molecular Medicine

ISSN: 1528-3658