Ataxia telangiectasia: a review
Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage resp...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2016-11-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Soggetti: | |
| Accesso online: | http://link.springer.com/article/10.1186/s13023-016-0543-7 |
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