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Details on Person Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

Class:IdLiteratureReference:9957610
_displayNameMutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
_timestamp2025-06-18 23:51:22
author[Person:9957609] Genet, S
[Person:5602541] Cranston, T
[Person:9957612] Middleton-Price, H R
created[InstanceEdit:9957611] Rothfels, Karen, 2025-06-18
journalJ Inherit Metab Dis
pages669-76
pubMedIdentifier11117428
titleMutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
volume23
year2000
(literatureReference)[FailedReaction:9956527] OTC variants don't synthesize L-citrulline [Homo sapiens]
[EntityWithAccessionedSequence:9957890] OTC H302R [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9957928] OTC L76S [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9957938] OTC M205V [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9957946] OTC N161D [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9957958] OTC P169L [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations (9957610)