Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length

Telomere biology disorders, largely characterized by telomere lengths below the first centile for age, are caused by variants in genes associated with telomere replication, structure, or function. One of these genes, ACD, which encodes the shelterin protein TPP1, is associated with both autosomal do...

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Detalles Bibliográficos
Autores principales: Henslee, Gabrielle, Williams, Christopher L., Liu, Pengfei, Bertuch, Alison A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903889/
https://www.ncbi.nlm.nih.gov/pubmed/33446513
http://dx.doi.org/10.1101/mcs.a005454

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903889/
https://www.ncbi.nlm.nih.gov/pubmed/33446513
http://dx.doi.org/10.1101/mcs.a005454

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