1.
Curr Protoc Hum Genet
; 86: 17.19.1-17.19.10, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26132002
RESUMO
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.