Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

BACKGROUND: The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs stem from the depletion of crucial stem cell populations in highly proliferative t...

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Detalles Bibliográficos
Autores principales: Trotta, Luca, Norberg, Anna, Taskinen, Mervi, Béziat, Vivien, Degerman, Sofie, Wartiovaara-Kautto, Ulla, Välimaa, Hannamari, Jahnukainen, Kirsi, Casanova, Jean-Laurent, Seppänen, Mikko, Saarela, Janna, Koskenvuo, Minna, Martelius, Timi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097299/
https://www.ncbi.nlm.nih.gov/pubmed/30115091
http://dx.doi.org/10.1186/s13023-018-0864-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097299/
https://www.ncbi.nlm.nih.gov/pubmed/30115091
http://dx.doi.org/10.1186/s13023-018-0864-9

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