Article
Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.
Biochemical and molecular medicine - 1 Dec 1995
Fridovich-Keil J L, Quimby B B, Wells L, Mazur L A, Elsevier J P
Abstract excerpt
Transferase-deficiency galactosemia is an inborn error of metabolism resulting from impairment of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which normally catalyzes the second step of the Leloir pathway of galactose metabolism. Several recent studies have linked a previously reported substitution, N314D (asn to asp at position 314), with both the Duarte and Los Angeles (LA) variant alleles of...
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