Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

F. Dagna Bricarelli, M. Magnani, A. Arslanian, G. Camera, D. A. Coviello, P. Di Pietro, B. Dallapiccola

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)112-114
Number of pages3
JournalHuman Genetics
Volume59
Issue number2
DOIs
Publication statusPublished - Nov 1981

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Dagna Bricarelli, F., Magnani, M., Arslanian, A., Camera, G., Coviello, D. A., Di Pietro, P., & Dallapiccola, B. (1981). Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band. Human Genetics, 59(2), 112-114. https://doi.org/10.1007/BF00293057