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A new ataxia-telangiectasia mutation in an 11-year-old female

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 respons...

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Bibliografiske detaljer
Udgivet i:Immunogenetics
Main Authors: Mortaz, Esmaeil, Marashian, Sayed Mehran, Ghaffaripour, Hosseinali, Varahram, Mohammad, Mehrian, Payam, Dorudinia, Atosa, Garssen, Johan, Adcock, Ian M., Taylor, Malcolm, Mahdaviani, Seyed Alireza
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5486830/
https://ncbi.nlm.nih.gov/pubmed/28488180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00251-017-0983-9
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