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A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation
The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to “DNA-repair defects” or “DNA-repair deficiency” disorders. The ATM (Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA)...
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| Publicado no: | J Pediatr Neurosci |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7847126/ https://ncbi.nlm.nih.gov/pubmed/33531947 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_152_19 |
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