Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Aoshima
T
T
Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan.
Kajita
M
M
Sekido
Y
Y
Kikuchi
S
S
Yasuda
I
I
Saheki
T
T
Watanabe
K
K
Shimokata
K
K
Niwa
T
T
D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation
D002222:Carbamoyl-Phosphate Synthase (Ammonia)