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Details on Person Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Class:Id	LiteratureReference:451985
_displayName	Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
_timestamp	2016-12-27 23:37:38
author	[Person:452014] Engel, K [Person:451988] H�hne, W [Person:3299647] H�berle, Johannes
created	[InstanceEdit:452030] D'Eustachio, P, 2010-01-14
journal	Hum Mutat
modified	[InstanceEdit:452049] D'Eustachio, P, 2010-01-14 [InstanceEdit:8953782] D'Eustachio, Peter, 2016-12-27
pages	300-7
pubMedIdentifier	19006241
title	Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
volume	30
year	2009
(literatureReference)	[Reaction:70577] ASS1 tetramer:NMRAL1 dimer:NADPH transforms L-Asp and L-Cit to ARSUA [Homo sapiens] [FailedReaction:9956517] ASS1 variants don't synthesize arginosuccinate [Homo sapiens] [EntityWithAccessionedSequence:9959123] ASS1 E191Q [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959129] ASS1 Y359D [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959132] ASS1 T284I [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959149] ASS1 R127Q [cytosol] [Homo sapiens] [CatalystActivityReference:9643595] argininosuccinate synthase activity of ASS1 tetramer:NMRAL1 dimer:NADPH [cytosol] Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
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