title: Confirmation of the regional assignment of peptidase A (PEPA) to 18q23 by gene dosage studies.
abstract: 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.
mesh_terms: D016282:Aspartic Acid Endopeptidases; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18; D010450:Endopeptidases / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D014314:Trisomy
chemical_list: D010450:Endopeptidases; C022325:aspartic proteinase A; D016282:Aspartic Acid Endopeptidases