Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset ce...
| Autores: | , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2020 |
| País: | Argentina |
| Institución: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repositorio: | CONICET Digital (CONICET) |
| Idioma: | inglés |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/160852 |
| Acceso en línea: | http://hdl.handle.net/11336/160852 |
| Access Level: | acceso abierto |
| Palabra clave: | ATAXIA TELANGIECTASIA AUTOSOMAL RECESSIVE ATAXIAS MILD PHENOTYPE NGS ATAXIA PANEL CEREBELLAR ATAXIA https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| Sumario: | Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition... |
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