The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency-Reference-Cited by-同舟云学术

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The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Published:2006-09 Issue:1-2 Volume:89 Page:80-86
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

EEDS A,HALL L,YADAV M,WILLIS A,SUMMAR S,PUTNAM A,BARR F,SUMMAR M

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing;Molecular Genetics and Metabolism Reports;2021-03

2. Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature;Frontiers in Genetics;2019-08-22

3. Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency;Pathology International;2016-05-05

4. The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle;Journal of Genetics and Genomics;2015-05

5. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function;Molecular Genetics and Metabolism;2014-06

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