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

Class:Id	LiteratureReference:9734156
_displayName	Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese
_timestamp	2021-06-15 14:51:12
author	[Person:5607177] Hidaka, Yuji [Person:9734178] Tarl�, Susan A [Person:9734152] Fujimori, Shin [Person:5625223] Kamatani, Naoyuki [Person:111184] Kelley, William N [Person:111193] Palella, Thomas D
created	[InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15
journal	J Clin Invest
pages	945-50
pubMedIdentifier	3343350
title	Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese
volume	81
year	1988
(literatureReference)	[FailedReaction:9734193] Defective APRT does not convert adenine to AMP [Homo sapiens] [EntityWithAccessionedSequence:9734184] APRT M136T [cytosol] [Homo sapiens] [CatalystActivityReference:9734192] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency
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