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Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients
BACKGROUND: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T patients manifest considerable variability in clinical and immunological features, suggesting the presence of genetic modifying factors. A striking...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer US
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821084/ https://www.ncbi.nlm.nih.gov/pubmed/34628594 http://dx.doi.org/10.1007/s10875-021-01147-8 |