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Details on Person Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis

Class:Id	LiteratureReference:9955126
_displayName	Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
_timestamp	2025-06-10 00:51:26
author	[Person:9955007] Pekkala, Satu [Person:9955057] Mart�nez, Ana I [Person:9955006] Barcelona, Bel�n [Person:9749265] Yefimenko, Igor [Person:9955127] Finckh, Ulrich [Person:8933707] Rubio, Vicente [Person:9955004] Cervera, Javier
created	[InstanceEdit:9955125] Rothfels, Karen, 2025-06-10
journal	Hum Mutat
pages	801-8
pubMedIdentifier	20578160
title	Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
volume	31
year	2010
(literatureReference)	[FailedReaction:9955543] CPS1 variants don't synthesize carbamoyl phosphate [Homo sapiens] [EntityWithAccessionedSequence:9955385] CPS1 Y1491H [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955389] CPS1 Q678P [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955395] CPS1 R1453Q [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955398] CPS1 P1411L [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955399] CPS1 R1453W [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955408] CPS1 P774L [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955420] CPS1 H337R [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955437] CPS1 T471N [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis (9955126)