Sokovnina Ia M, Mareeva T B, Pliushch O P, Votrin I I
Vopr Med Khim. 1985 Sep-Oct;31(5):114-7.
Activities of adenine phosphoribosyltransferase (EC 2.4.2.7 APRT) and hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8 HGPRT) were studied in thrombocytes of healthy donors, patients with hemophilia A and B and of women--heterozygote carriers of the pathologic gene. The data obtained suggest that HGPRT test may be used as a genetic marker of hemophilia as well as to detect the heterozygote carriers; estimation of APRT activity is suitable test for differentiation of hemophilia forms.