| Literature DB >> 632976 |
L Sweetman, M A Hoch, B Bakay, M Borden, P Lesh, W L Nyhan.
Abstract
A variant form of hypoxanthine-guanine phosphoribosyl transferase has been found in a neurologically normal pediatric patient who presented with hematuria an episodes of oliguria and azotemia. The level of erythrocyte enzyme activity was 3% of normal. Electrophoretic mobility was more rapid than normal. The Km for hypoxanthine was approximately ten times normal. Immunochemical analysis indicated that the variant enzyme cross reacted with antibody to normal HPRT. A system is described for the systematic characterization of a variant HPRT.Entities:
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Year: 1978 PMID： 632976 DOI： 10.1016/s0022-3476(78)80424-7
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406