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Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomic for chromosome 21
Authors:J A Bartley  C J Epstein
Affiliation:1. Department of Pediatrics University of California, San Francisco, California 94143 USA;2. Department of Biochemistry and Biophysics University of California, San Francisco, California 94143 USA
Abstract:The mean activity of glycinamide ribonucleotide synthetase of fibroblasts from fetuses with trisomy 21 is 1.64 — times that of normal cells. This gene dosage effect is confirmatory of the assignment of the gene for this enzyme to human chromosome 21.
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