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Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival
Ataxia telangiectasia (AT) and ataxia oculomotor apraxia type 2 (AOA2) are autosomal recessive ataxias caused by mutations in genes involved in maintaining DNA integrity. Lifespan in AT is greatly shortened (20s–30s) due to increased susceptibility to malignancies (leukemia/lymphoma). Lifespan in AO...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4017341/ https://ncbi.nlm.nih.gov/pubmed/24090759 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2013.09.014 |
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