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Expression of galactose 1 phosphate uridyl transferase ec 2.7.7.12 in 2 unrelated 9p minus patients evidence for assignment of the galt locus to the 9p21 band


, : Expression of galactose 1 phosphate uridyl transferase ec 2.7.7.12 in 2 unrelated 9p minus patients evidence for assignment of the galt locus to the 9p21 band. Human Genetics 59(2): 112-114

The quantitative expression of GALT [galactose-1-phosphate uridyl transferase] and galactose utilization were investigated in 2 patients with 9p deletion. Case 1 had a distal deletion of the band 9p22.fwdarw.pter, while case 2 had an interstitial deletion of the region 9p133.fwdarw.p23. In the former patient GALT activity and galactose utilization were normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The GALT locus is apparently in the 9p21 band.

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