Article
Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
The Journal of pediatrics - 1 Aug 1994
Kaufman F R, Reichardt J K, Ng W G, Xu Y K, Manis F R, McBride-Chang C, Wolff J A
Abstract excerpt
This study was conducted to determine whether there is a genotype/phenotype correlation between aspects of cognitive, neurologic, and ovarian outcome in patients with galactosemia and the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. The results showed that the Q188R mutation was found in 72% of alleles: 38 patients were homozygous and 21 were heterozygous for Q188R; eight patients did not...
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