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)...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
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

Internet

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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