Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.-Reference-Cited by-同舟云学术

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Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Published:1993-05-01 Issue:5 Volume:91 Page:1884-1887
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Hoshide R,Matsuura T,Haraguchi Y,Endo F,Yoshinaga M,Matsuda I

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Cited by 29 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. Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases;Bioorganic Chemistry;2023-01

2. Carbamoyl Phosphate Synthetase I Deficiency;Genetic Syndromes;2023

3. Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency;Frontiers in Neuroscience;2022-10-21

4. Quantifying Serum Derived Differential Expressed and Low Molecular Weight Protein in Breast Cancer Patients;Protein & Peptide Letters;2020-08-13

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

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