| 1 | CEPX, GATA1 |
| Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. | |
| Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. | |
| Blood 109(6):2618-21. Epub 2006 Dec 5. 2007 | |