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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been utilised as part of the diagnostic work-up of patients with these diseases; here, we have tested the utility of high-throughput STELA (HT-STELA)...
Autores principales: | Norris, Kevin, Walne, Amanda J., Ponsford, Mark J., Cleal, Kez, Grimstead, Julia W., Ellison, Alicia, Alnajar, Jenna, Dokal, Inderjeet, Vulliamy, Tom, Baird, Duncan M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099822/ https://www.ncbi.nlm.nih.gov/pubmed/33709208 http://dx.doi.org/10.1007/s00439-021-02257-4 |
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