Article
Down syndrome clinical symptoms are manifested in transfected cells and transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.
Journal de physiologie - 1 Jan 1990
Groner Y, Elroy-Stein O, Avraham K B, Yarom R, Schickler M, Knobler H, Rotman G
Abstract excerpt
Down syndrome (DS), the phenotypic expression of human trisomy 21, is presumed to result from overexpression of certain genes residing on chromosome 21 at the segment 21q22-the Down locus. The "housekeeping" enzyme CuZn-superoxide dismutase (CuZnSOD) is encoded by a gene from that region and its activity is elevated in DS patients. To investigate the possible involvement of CuZnSOD gene dosage in the etiology of...
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