Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Christine M DeAntonis"'
Autor:
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 28-39 (2019)
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT). AGT catalyzes the conversion of glyoxyl
Externí odkaz:
https://doaj.org/article/34d2d66e91a546d3a80cafe65ab1b4dd
