Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

Dyskeratosis congenita (DC) is a heterogeneous bone marrow failure syndrome with seven disease-causing genes identified to date, six of which are linked to telomere maintenance. Mutations in one of these genes (TINF2), which encodes a component of the shelterin complex, are associated with particula...

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Detalles Bibliográficos
Autores principales: Vulliamy, T, Beswick, R, Kirwan, MJ, Hossain, U, Walne, AJ, Dokal, I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2012
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654171/
https://www.ncbi.nlm.nih.gov/pubmed/21199492
http://dx.doi.org/10.1111/j.1399-0004.2010.01605.x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654171/
https://www.ncbi.nlm.nih.gov/pubmed/21199492
http://dx.doi.org/10.1111/j.1399-0004.2010.01605.x

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