Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. The molecular basis of the deficiency was investigated by determining the sequence of both alleles of a patient with a complete deficiency in APRT activity. A trinuc...

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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Hidaka, Y, Palella, T D, O'Toole, T E, Tarlé, S A, Kelley, W N
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1987
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442397/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3680503/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113219
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