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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Vydáno v:Immunogenetics
Hlavní autoři: Mortaz, Esmaeil, Marashian, Sayed Mehran, Ghaffaripour, Hosseinali, Varahram, Mohammad, Mehrian, Payam, Dorudinia, Atosa, Garssen, Johan, Adcock, Ian M., Taylor, Malcolm, Mahdaviani, Seyed Alireza
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2017
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Original Article
On-line přístup: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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