Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.7 (adenine phosphoribosyltransferase)
692 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies]. 409 Mar 55