Jing Wang Oleg A Shchelochkov Hongli Zhan Fangyuan Li Li-Chieh Chen Ellen K Brundage Amber N Pursley Eric S Schmitt Johannes Häberle Lee-Jun C Wong
10.1016/j.ymgme.2010.08.020
Mol Genet Metab
2011 Jan;102(1):103-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/20855223/
Carbamoyl-Phosphate Synthase (Ammonia) / genetics Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis Gene Deletion
Carbamoyl-Phosphate Synthase (Ammonia) / genetics Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis Gene Deletion Case Reports Base Sequence Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics Child, Preschool Fatal Outcome Female Heterozygote Humans Infant, Newborn Male Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Carbamoyl-Phosphate Synthase (Ammonia)
PMC4869965
20855223
Molecular characterization of CPS1 deletions by array CGH
2011