Another family with purine neucleoside phosphorylase deficiency.
A brief genetic report is given on a family with a child affected by nucleoside phosphorylase deficiency. Our observations confirm the genetic heterogeneity of this enzyme deficiency which is inherited as a mendelian autosomal trait.
D003241:Consanguinity; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics
D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase