C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

@article{Frank1998C73RIA,
  title={C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.},
  author={Jorge Frank and Xuebin Wang and Hing Mo Lam and Vincent M. Aita and Frank K Jugert and G{\"u}nter Goerz and Hans Friedrich Merk and Maureen B. Poh-Fitzpatrick and Angela M. Christiano},
  journal={Annals of human genetics},
  year={1998},
  volume={62 Pt 3},
  pages={225-30}
}
Congenital erythropoietic porphyria (CEP) results from profoundly deficient activity of the fourth enzyme of the haeme biosynthetic pathway, uroporphyrinogen III synthase (UROIIIS). CEP is a rare, recessively inherited disorder, and mutations in the UROIIIS gene detected in CEP patients are heterogeneous. The notable exception to this rule is a single… CONTINUE READING