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Details on Person Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

Class:IdLiteratureReference:9954963
_displayNameCarbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
_timestamp2025-06-10 00:48:09
author[Person:9954960] Aoshima, T
[Person:9954966] Kajita, M
[Person:3288387] Sekido, Y
[Person:9954968] Mimura, S
[Person:9954961] Itakura, A
[Person:9954969] Yasuda, I
[Person:9954962] Saheki, T
[Person:3791152] Watanabe, K
[Person:9954965] Shimokata, K
[Person:9954967] Niwa, T
created[InstanceEdit:9954964] Rothfels, Karen, 2025-06-10
journalPrenat Diagn
pages634-7
pubMedIdentifier11536261
titleCarbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
volume21
year2001
(literatureReference)[EntityWithAccessionedSequence:9955381] CPS1 Q375* [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9955420] CPS1 H337R [mitochondrial matrix] [Homo sapiens]
[FailedReaction:9955543] CPS1 variants don't synthesize carbamoyl phosphate [Homo sapiens]
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No pathways have been reviewed or authored by Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis (9954963)