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Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool
Diez-Fernandez, Carmen, Martínez, Ana I., Pekkala, Satu, Barcelona, Belén, Pérez-Arellano, Isabel, Guadalajara, Ana María, Summar, Marshall, Cervera, Javier, Rubio, VicenteVolume:
34
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22349
Date:
August, 2013
File:
PDF, 1.45 MB
english, 2013