Article
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Human mutation - 1 Jul 2012
Tang Manshu, Facchiano Angelo, Rachamadugu Rakesh, Calderon Fernanda, Mao Rong, Milanesi Luciano, Marabotti Anna, Lai Kent
Abstract excerpt
Galactose-1-phosphate uridylyltransferase (GALT) catalyzes the conversion of galactose-1-phosphate to UDP-galactose, a key step in the galactose metabolism. Deficiency of GALT activity in humans caused by deleterious variations in the GALT gene can cause a potentially lethal disease called classic galactosemia. In this study, we selected 14 novel nucleotide sequence changes in the GALT genes found in galactosemic...
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