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Details on Person Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

Class:IdLiteratureReference:9734273
_displayNameMolecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts
_timestamp2021-06-16 19:54:50
author[Person:9734265] Davidson, Beverly L
[Person:9734178] Tarlé, Susan A
[Person:111193] Palella, Thomas D
[Person:111184] Kelley, William N
created[InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16
journalJ Clin Invest
modified[InstanceEdit:9734306] D'Eustachio, Peter, 2021-06-16
pages342-6
pubMedIdentifier2738157
titleMolecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts
volume84
year1989
(literatureReference)[FailedReaction:9734274] Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP [Homo sapiens]
[EntityWithAccessionedSequence:9734269] HPRT1 D194N [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734286] HPRT1 G70E [cytosol] [Homo sapiens]
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