Article
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Aug 2021
Amirifar Parisa, Ranjouri Mohammad Reza, Pashangzadeh Salar, Lavin Martin, Yazdani Reza, Moeini Shad Tannaz, Mehrmohamadi Mahya, Salami Fereshte, Delavari Samaneh, Moamer Soraya, Aghamohammadi Asghar, Akrami Seyed Mohammad, Abolhassani Hassan
Abstract excerpt
BACKGROUND: Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by a distinct range of clinical manifestations, including progressive ataxia, immunodeficiency, and radiosensitivity. METHODS: 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 as suffering from...
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