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Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres

The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cell division ‒ is shortened. Inherited genetic variants cause telomere biology disorders when...

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Detalles Bibliográficos
Autores principales: Byrjalsen, Anna, Brainin, Anna Engell, Lund, Thomas Kromann, Andersen, Mette Klarskov, Jelsig, Anne Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184327/
https://www.ncbi.nlm.nih.gov/pubmed/37189188
http://dx.doi.org/10.1186/s13053-023-00251-7