INVESTIGADORES
CONDE Cecilia Beatriz
artículos
Título:
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant
Autor/es:
LARÓVERE, L.E.; ROMERO, N.; FAIRBANKS, L.D.; CONDE, C.; GUELBERT, N.; ROSA, A.L.; DODELSON DE KREMER, R.
Revista:
MOLECULAR GENETICS AND METABOLISM
Editorial:
ACADEMIC PRESS INC ELSEVIER SCIENCE
Referencias:
Año: 2004 vol. 81 p. 352 - 354
ISSN:
1096-7192
Resumen:
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel mutation in the HPRT gene, c.584AC (Y195S), in two unrelated Argentine patients affected with the neurological variant with no HPRT activity in lysed erythrocytes. Using PCR plus DNA sequencing and/or restriction enzyme digestion we were able to confirm the diagnosis and identify new cases and potential carriers. © 2004 Elsevier Inc. All rights reserved.
