Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine urolithiasis. In previous reports, analysis of the kinetic properties of APRT from APRT-deficient Japanese subjects revealed strikingly similar abnormalities suggesting a distinct "Japanese-type" mutat...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Hidaka, Y, Tarlé, S A, Fujimori, S, Kamatani, N, Kelley, W N, Palella, T D
Format: Artigo
Langue:Inglês
Publié: 1988
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC442550/
https://ncbi.nlm.nih.gov/pubmed/3343350
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires