TY  - GEN
AU  - Hamilton,David
AU  - Wu,Jian Hui
AU  - Alaoui-Jamali,Moulay
AU  - Batist,Gerald
TI  - A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production
SN  - 0006-4971
PY  - 2003///0912
KW  - Amino Acid Substitution
KW  - Animals
KW  - Binding Sites
KW  - Catalytic Domain
KW  - genetics
KW  - Cells, Cultured
KW  - enzymology
KW  - Codon
KW  - Fibroblasts
KW  - Glutamate-Cysteine Ligase
KW  - chemistry
KW  - Glutathione
KW  - biosynthesis
KW  - Homozygote
KW  - Humans
KW  - Kinetics
KW  - Mice
KW  - Mice, Knockout
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Protein Conformation
KW  - Recombinant Fusion Proteins
KW  - metabolism
KW  - Structure-Activity Relationship
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1182/blood-2002-11-3622
ER  -