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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Autors principals: Staples, E R, McDermott, E M, Reiman, A, Byrd, P J, Ritchie, S, Taylor, A M R, Davies, E G
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Science Inc 2008
Matèries:
Translational Studies
Accés en línia: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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