Confirmation of the regional assignment of peptidase a (PEPA) to 18q23 by gene dosage studies
Junien, C.; de Grouchy, J.; Turleau, C.; Serville, F.
Annales de Genetique 23(2): 89-90
1980
ISSN/ISBN: 0003-3995 PMID: 6994582 Document Number: 166738
Peptidase A (PepA) activity was measured in five patients with trisomy or monosomy of the distal portion of 18q. The ratio propositus/mean parent (sum of the values of the father and mother divided by two) showed a gene dosage effect, confirming the localization of the gene in 18q23.
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