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Details on Person Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients

Class:IdLiteratureReference:9734289
_displayNameHypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients
_timestamp2021-06-16 19:54:49
author[Person:9734268] Laróvere, L E
[Person:9734284] O'Neill, J P
[Person:9734266] Randall, M
[Person:9734292] Fairbanks, L D
[Person:9734282] Guelbert, N
[Person:9734293] Czornyj, L
[Person:9734278] de Kremer, R Dodelson
created[InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16
journalNucleosides Nucleotides Nucleic Acids
modified[InstanceEdit:9734306] D'Eustachio, Peter, 2021-06-16
pages255-8
pubMedIdentifier17454734
titleHypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients
volume26
year2007
(literatureReference)[FailedReaction:9734274] Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP [Homo sapiens]
[EntityWithAccessionedSequence:9734286] HPRT1 G70E [cytosol] [Homo sapiens]
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