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Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
OBJECTIVE: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency. METHODS: Clinical assessments, next-generation sequencing, transcript and im...
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| Publié dans: | Neurol Genet |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wolters Kluwer
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6283458/ https://ncbi.nlm.nih.gov/pubmed/30584599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000295 |
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