Direct evidence of mutation at the locus for galactose-1-phosphate uridyl transferase.
D005260:Female; D005693:Galactosemias / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009713:Nucleotidyltransferases; D010334:Paternity; D010375:Pedigree
D009713:Nucleotidyltransferases