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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol GSDE
Location 20q11.21
Name hemolytic anemia due to glutathione synthetase deficiency of erythrocytes
Corresponding gene GSS
Main clinical features mild form
Genetic determination autosomal recessive
Function/system disorder hematology
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   under-expression