Next-generation sequencing reveals a novel pathogenic variant in the ATM gene-Reference-Cited by-同舟云学术

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene

Published:2021-01-24 Issue: Volume: Page:1-5
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Pourahmadiyan Azam¹,Alipour Paria¹,Golchin Neda²,Tabatabaiefar Mohammad Amin³⁴

Affiliation:

1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran

2. Ahvaz Noor Medical Genetics Laboratory, Ahvaz, Iran

3. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

4. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

Funder

Isfahan University of Medical Sciences and Ahvaz Noor Medical Genetics Lab

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2020.1826944

Reference31 articles.

1. Ataxia-Telangiectasia

2. Characterization of ATM gene mutations in 66 ataxia telangiectasia families

3. Ten new ATM alterations in Polish patients with ataxia‐telangiectasia

4. Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

5. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells

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