Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

We analyzed mutant alleles of adenine phosphoribosyltransferase (APRT) deficiency in Japanese patients. Among 141 defective APRT alleles from 72 different families, 96 (68%), 30 (21%), and 10 (7%) had an ATG to ACG missense mutation at codon 136 (APRT*J allele), TGG to TGA nonsense mutation at codon...

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Detalles Bibliográficos

Publicado en:	J Clin Invest
Principais autores:	Kamatani, N, Hakoda, M, Otsuka, S, Yoshikawa, H, Kashiwazaki, S
Formato:	Artigo
Idioma:	Inglês
Publicado:	American Society for Clinical Investigation 1992
Assuntos:	Research Article
Acceso en liña:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443071/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1353080/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115825
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