Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow failure syndrome characterized by mucocutaneous abnor...

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Detalles Bibliográficos
Autores principales: Koivuluoma, Susanna, Vorimo, Sandra, Mattila, Tiina M., Tervasmäki, Anna, Kumpula, Timo, Kuismin, Outi, Winqvist, Robert, Moilanen, Jukka, Mantere, Tuomo, Pylkäs, Katri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829577/
https://www.ncbi.nlm.nih.gov/pubmed/35590014
http://dx.doi.org/10.1007/s10689-022-00295-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829577/
https://www.ncbi.nlm.nih.gov/pubmed/35590014
http://dx.doi.org/10.1007/s10689-022-00295-z

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