Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
Curr Protoc Hum Genet
; 86: 17.19.1-17.19.10, 2015 Jul 01.
Article
en En
| MEDLINE
| ID: mdl-26132002
ABSTRACT
Hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is the cause of Lesch-Nyhan disease. Adenine phosphoribosyl-transferase (APRT) deficiency causes renal calculi. The activity of each enzyme is readily determined on spots of whole blood on filter paper. This unit describes a method for detecting deficiencies of HPRT and APRT.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Adenina Fosforribosiltransferasa
/
Pruebas de Enzimas
/
Hipoxantina Fosforribosiltransferasa
/
Síndrome de Lesch-Nyhan
Límite:
Humans
Idioma:
En
Revista:
Curr Protoc Hum Genet
Año:
2015
Tipo del documento:
Article