Article
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Human mutation - 1 Jan 2001
Hunter M, Angelicheva D, Levy H L, Pueschel S M, Kalaydjieva L
Abstract excerpt
Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with...
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