Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1

Sofian Al Wardat; Loredana Frassinelli; Elisa Orecchini; Federica Rey; Silvia Anna Ciafrè; Silvia Galardi; Jessica Garau; Stella Gagliardi; Simona Orcesi; Davide Tonduti; Stephana Carelli; Cristina Cereda; Ernesto Picardi; Alessandro Michienzi

doi:10.1016/j.gendis.2023.05.020

您当前的位置：

首页 >

文章列表页 >

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1

Short communication | 更新时间：2024-02-04

- Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1
- Genes & Diseases Vol. 11, Issue 3, (2024)
- 作者机构：
  
  1. Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), Buzzi Children's Hospital,Milano,Italy,20154
  2. Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome,Italy,00133
  3. Department of Biosciences, Biotechnologies and Environment, University of Bari “Aldo Moro”,Bari,Italy,70125
  4. Biostructures and Biosystems National Institute (INBB), Rome,Italy,00136
  5. Pediatric Clinical Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milano,Milano,Italy,20157
  6. Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation,Pavia,Italy,27100
  7. Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital,Milano,Italy,20154
  8. Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), National Research Council (CNR),Bari,Italy,70126
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.05.020
  CLC：
- Published：2024，
  
  Published Online：1 May 2024，
扫描看全文
Sofian Al Wardat, Loredana Frassinelli, Elisa Orecchini, et al. Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1. [J]. Genes & Diseases 11(3).(2024)
DOI：

Sofian Al Wardat, Loredana Frassinelli, Elisa Orecchini, et al. Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1. [J]. Genes & Diseases 11(3).(2024) DOI： 10.1016/j.gendis.2023.05.020.

摘要

Abstract

关键词

Keywords

references

查看原文

Views

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

No data

Related Author

No data

Related Institution

No data

⁰

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1

DOI：10.1016/j.gendis.2023.05.020

摘要

Abstract

关键词

Keywords

references