Browsing College of Health Sciences by Subject "galactosemia type 2"
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Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
( Wiley , 2018 , Article)Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper ...