ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The residual HGPRT activity in a patient with the Lesch-Nyhan syndrome was 10–15% in haemolysate and about 30% in fibroblast lysate. Due to a structural mutation affecting the PRPP site of the enzyme (increasedK m PRPP, absence of product inhibition, absence of stabilization by PRPP) thein vivo activity in intact erythrocytes was negligible.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02263643