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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Detaylı Bibliyografya
Asıl Yazarlar: Staples, E R, McDermott, E M, Reiman, A, Byrd, P J, Ritchie, S, Taylor, A M R, Davies, E G
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Science Inc 2008
Konular:
Translational Studies
Online Erişim: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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