Condition: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
rs760031222
in
GCLC
gene and
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
PMID 10515893
1999 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
PMID 10733484
2000 A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.
PMID 12663448
2003 A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.
rs121907946
in
LOC105375095;GCLC
gene and
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
PMID 12663448
2003 A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.
PMID 10515893
1999 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
PMID 10733484
2000 A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.