Article

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia

2020-12-02

Abstract excerpt

Abstract Background: Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by a distinct range of clinical manifestations, including progressive ataxia, immunodeficiency, and radiosensitivity. <h4>Methods:</h4> Clinical data, laboratory results, and genetic data were collected from forty-three A-T patients. Whole exome sequencing and Sanger sequencing were done for the patients clinically diagnosed...

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Literature Corpus work: 54e5517e-c2e8-5e49-9e64-30603e35f3a0
DOI: 10.22541/au.160691044.43790616/v1

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