Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
Vockley
J G
JG
Division of Medical Genetics, UCLA School of Medicine 90024.
Tabor
D E
DE
Kern
R M
RM
Goodman
B K
BK
Wissmann
P B
PB
Kang
D S
DS
Grody
W W
WW
Cederbaum
S D
SD
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001119:Arginase / Q000235:genetics*; D001120:Arginine / Q000097:blood*; D017124:Conserved Sequence; D005091:Exons; D006801:Humans; D020162:Hyperargininemia; D008099:Liver / Q000201:enzymology*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D001120:Arginine; D001119:Arginase