Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

Autor: Weiss, Yedidyah, Balwani, Manisha, Chen, Brenden, Yasuda, Makiko, Nazarenko, Irina, Desnick, Robert J.
Zdroj: In Molecular Genetics and Metabolism November 2019 128(3):358-362
Databáze: ScienceDirect