Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.

Abstract excerpt

UNLABELLED: More than 160 different base changes have been described at the galactose-1-phosphate uridyltransferase gene and most of these are associated with a disease phenotype. Q188R is the most common mutation in north European populations and those predominantly of European descent. K285N is much rarer but in some countries of east/central Europe it is the second most common mutation. In some populations of...

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