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Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
Immunodeficiency affects over half of all patients with ataxia telangiectasia (A-T) and when present can contribute significantly to morbidity and mortality. A retrospective review of clinical history, immunological findings, ataxia telangiectasia mutated (ATM) enzyme activity and ATM mutation type...
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Main Authors: | , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Blackwell Science Inc
2008
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2492895/ https://ncbi.nlm.nih.gov/pubmed/18505428 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2249.2008.03684.x |
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