Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immune defects and predisposition to malignancies. A-T is caused by biallelic inactivation of the ATM gene, in most cases by frameshift or nonsense mutati...

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Hlavní autoři: Jacquemin, Virginie, Rieunier, Guillaume, Jacob, Sandrine, Bellanger, Dorine, d'Enghien, Catherine Dubois, Laugé, Anthony, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283185/
https://ncbi.nlm.nih.gov/pubmed/22071889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.196
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