Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Autor: | Loskove, Yonina1 (AUTHOR) yonina.loskove@mssm.edu, Yasuda, Makiko1 (AUTHOR) makiko.yasuda@mssm.edu, Chen, Brenden1 (AUTHOR) brenden.chen@mssm.edu, Nazarenko, Irina1 (AUTHOR) irina.nazarenko@sema4genomics.com, Cody, Neal1 (AUTHOR) neal.cody@sema4genomics.com, Desnick, Robert J.1 (AUTHOR) robert.desnick@mssm.edu |
---|---|
Zdroj: | Molecular Genetics & Metabolism. Nov2019, Vol. 128 Issue 3, p352-357. 6p. |
Databáze: | Academic Search Ultimate |
Externí odkaz: |