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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 mutation	Chromosome rearrangement	Effect	Comments
missense		under-expression