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
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