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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Argitaratua izan da:	J Clin Invest
Egile Nagusiak:	Hidaka, Y, Palella, T D, O'Toole, T E, Tarlé, S A, Kelley, W N
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	American Society for Clinical Investigation 1987
Gaiak:	Research Article
Sarrera elektronikoa:	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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