N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

Authors

S.K. Heibel
N. Ah Mew
L. Caldovic
Y. Daikhin
M. Yudkoff

Document Type

Journal Article

Publication Date

2011

Journal

Human Mutation

Volume

32

Issue

10

Inclusive Pages

1153-1160

Keywords

Pediatrics

APA Citation

Heibel, S., Ah Mew, N., Caldovic, L., Daikhin, Y., & Yudkoff, M. (2011). N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. Human Mutation, 32 (10). Retrieved from https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/5417