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Han sido caracterizados los genes HGPRT de T brucei y T cruzi (18,19).
After an initial denaturation for 69 s at 95 [degrees]C, 36 cycles of amplification (93 [degrees]C for 55 s, 61 [degrees]C for 45 s, 72 [degrees]C for 40 s) for cytokine and hypoxanthine-guanine-phosphoribosyltransferase (HGPRT as internal standard) cDNAs were performed followed by a 100 s step for elongation at 72 [degrees]C.
The uric acid concentration is a useful diagnostic marker for deficiencies of phosphoribosyl pyrophosphate synthetase (PRPPS)  hypoxanthine guanine phosphoribosyl transferase (HGPRT), purine nucleoside phosphorylase (PNP), xanthine dehydrogenase (XDH), and molybdenum cofactor (2).
A single mutation in the gene that encodes an enzyme called hypoxanthine-guanine phosphoribosyl transferase, or HGPRT, is responsible for Lesch-Nyhan disease.
The medical literature has described an increased frequency of mutation of the gene responsible for producing the hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme in poison gas workers who had long term exposure to mustard gas and who comprised a high risk group for malignant tumors such as respiratory tract cancer.
After an initial denaturation for 69s at 95 [degrees], 36 cycles of amplification (93[degrees]C for 55s, 61[degrees]C for 45s, 72 [degrees]C for 40s) for TNF-[alpha] and HGPRT (hypoxanthine-guanine-phosphoribosyltransferase, as a positive control and internal standard) cDNAs were performed followed by a 100-s step for elongation at 72 [degrees].
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- HGPRT deficiency