Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel <scp> <i>ASS1</i> </scp> gene mutations-Reference-Cited by-同舟云学术

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Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

Published:2022-03-09 Issue:3 Volume:63 Page:231-239
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Moarefian Shirin¹²^ORCID,Zamani Mahdi¹³,Rahmanifar Ali²,Behnam Babak⁴^ORCID,Zaman Talieh²⁵

Affiliation:

1. Department of Neurogenetics, Iranian Center of Neurological Research (ICNR) Tehran University of Medical Sciences Tehran Iran

2. Clinical and Research Unit Iranian National Society for the Study of Inborn Errors of Metabolism Tehran Iran

3. Department of Medical Genetics, School of Medicine Tehran University of Medical Sciences Tehran Iran

4. Department of Medical Genetics and Molecular Biology Iran University of Medical Sciences Tehran Iran

5. Metabolic Unit of the Children's Medical Center, School of Medicine Tehran University of Medical Science Tehran Iran

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12277

Reference23 articles.

1. Investigation of citrullinemia type I variants by in vitro expression studies

2. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

3. Molecular genetics of citrullinemia types I and II

4. A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

5. Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene

Cited by 2 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. Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series;International Journal of Reproductive BioMedicine (IJRM);2023-01-09

2. Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations;Frontiers in Pediatrics;2022-10-03

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