Article
A new ataxia-telangiectasia mutation in an 11-year-old female.
Immunogenetics - 1 Jul 2017
Mortaz Esmaeil, Marashian Sayed Mehran, Ghaffaripour Hosseinali, Varahram Mohammad, Mehrian Payam, Dorudinia Atosa, Garssen Johan, Adcock Ian M, Taylor Malcolm, Mahdaviani Seyed Alireza
Abstract excerpt
Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This...
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