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THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES
Gespeichert in:
| Zeitschriftentitel: | The Journal of Experimental Medicine |
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| Personen und Körperschaften: | |
| In: | The Journal of Experimental Medicine, 118, 1963, 3, S. 359-370 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Rockefeller University Press
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| Schlagwörter: |
| Zusammenfassung: | <jats:p>A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented.</jats:p> <jats:p>The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective.</jats:p> <jats:p>Use of the test in genetic counseling and genetic epidemological studies is discussed.</jats:p> |
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| Umfang: | 359-370 |
| ISSN: |
1540-9538
0022-1007 |
| DOI: | 10.1084/jem.118.3.359 |