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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2012
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| Materias: | |
| 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 |