Article
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
American journal of human genetics - 1 Apr 2001
Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao K J, Choeh K, Yang Y, Cao Q, Reichardt J K, Niihira S, Imamura T, Yamano T
Abstract excerpt
Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation. Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency. GALK activity and the amount of immunoreactive protein in the mutant were both...
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