title: Gene dose effect: regional mapping of human nuceloside phosphorylase on chromosome 14.
abstract: Quantitative analyses of erythrocyte nucleoside phosphorylase in four unrelated cases of partial trisomy 14 indicate that the structural gene for this enzyme maps in the chromosome region 14q11 leads to 14q21.
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010430:Pentosyltransferases / Q000097:blood; D011683:Purine-Nucleoside Phosphorylase / Q000097:blood
chemical_list: D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase