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" mutation. In th...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Hidaka, Y, Tarlé, S A, Fujimori, S, Kamatani, N, Kelley, W N, Palella, T D
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1988
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442550/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3343350/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113408
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