Biological sciences
Whole exome sequencing reveals the first c.7456C>T p.Arg2486X mutation in ATM gene in Iranian population

Saeed Dorgaleleh; Karim Naghipoor; Teymoor Khosravi; Amin Tadayoni Nia; Elham Sheikhi Ghayur; Hamayon abdul Aziz; Morteza Oladnabi

Volume 6, Issue 3 , December 2022, , Pages 57-72

https://doi.org/10.22034/HBB.2022.23

Abstract
  Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha ...  Read More