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A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system

Wedi'i Gadw mewn:
Prif Awduron: Stuti Bakshi, Taryn Diep, Brandon J. Willis, Rachel Reyes, Grace F. Wu, Georgios Makris, Martin Poms, Isabel Day, Qin Sun, Irina Zhuravka, Lindsay Lueptow, Michelle Tang, Gareth A. Cromie, Aimée M. Dudley, Johannes Häberle, Gerald S. Lipshutz
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists 2025-07-01
Cyfres:Disease Models & Mechanisms
Pynciau:
carbamoyl phosphate synthetase 1 deficiency
human mutation
enzyme activity
hyperammonemia
glutamine
Mynediad Ar-lein:http://dmm.biologists.org/content/18/7/dmm052303
Tagiau: Ychwanegu Tag
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