Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomic for chromosome 21
Biochemical and Biophysical Research CommunicationsPublished 1 April 1980
James Bartley, Charles J. Epstein
Citations27
SJR quartileQ2
SJR score0.75
SNIP0.56
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TL;DR
The gene dosage effect is confirmatory of the assignment of the gene for this enzyme to human chromosome 21 and the mean activity of glycinamide ribonucleotide synthetase of fibroblasts from fetuses with trisomy 21 is 1.64 times that of normal cells.
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.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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