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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)...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847126/ https://www.ncbi.nlm.nih.gov/pubmed/33531947 http://dx.doi.org/10.4103/jpn.JPN_152_19 |