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Details on Person Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

Class:IdLiteratureReference:9958116
_displayNameUse of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency
_timestamp2025-06-19 19:08:08
author[Person:9958112] Finkelstein, J E
[Person:2470583] Francomano, C A
[Person:9958113] Brusilow, S W
[Person:9958114] Traystman, M D
created[InstanceEdit:9958115] Rothfels, Karen, 2025-06-19
journalGenomics
pages167-72
pubMedIdentifier2347583
titleUse of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency
volume7
year1990
(literatureReference)[FailedReaction:9956527] OTC variants don't synthesize L-citrulline [Homo sapiens]
[EntityWithAccessionedSequence:9958175] OTC R277W [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9958218] OTC P245W [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency (9958116)