Rihwa Choi Hyung Doo Park Mina Yang Chang Seok Ki Soo Youn Lee Jong Won Kim Junghan Song Yun Sil Chang Won Soon Park
10.3343/alm.2017.37.1.58
Ann Lab Med
2017 Jan;37(1):58-62.
cps1 carbamoyl-phosphate synthetase 1 deficiency hyperammonemia urea cycle disorders whole exome sequencing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/27834067/
Carbamoyl-Phosphate Synthase (Ammonia) / genetics Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics
Carbamoyl-Phosphate Synthase (Ammonia) / genetics Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics Case Reports Base Sequence Carbamoyl-Phosphate Synthase (Ammonia) / chemistry Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis Codon, Nonsense Exons Female Frameshift Mutation High-Throughput Nucleotide Sequencing Humans Infant, Newborn Republic of Korea Sequence Analysis, DNA Urea Cycle Disorders, Inborn / diagnosis Codon, Nonsense Carbamoyl-Phosphate Synthase (Ammonia)
PMC5107619
27834067
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
2017