| 1 | ALAS2, EPPX |
| C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. | |
| Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. | |
| Am J Hum Genet 83(3):408-14. Epub 2008 Sep 4. 2008 | |
| 2 | EPPX, PPOX, VP1 |
| Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. | |
| Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. | |
| Hum Genet 114(3):256-62. Epub 2003 Dec 11. 2004 | |
| 3 | EPPX |
| Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. | |
| Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC. | |
| Blood 96(4):1545-9. 2000 | |