Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band
- 1 November 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 59 (2) , 112-114
- https://doi.org/10.1007/bf00293057
Abstract
The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22→pter, while case 2 had an interstitial deletion of the region 9p133→p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.Keywords
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