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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2012
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| विषय: | |
| ऑनलाइन पहुंच: | 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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