Triallelic and epigenetic-like inheritance in human disorders of telomerase

Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related genes including the reverse transcriptase (TERT) and...

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Dettagli Bibliografici
Pubblicato in:Blood
Autori principali: Collopy, Laura C., Walne, Amanda J., Cardoso, Shirleny, de la Fuente, Josu, Mohamed, Mahfuzah, Toriello, Helga, Tamary, Hannah, Ling, Adam J. Y. V., Lloyd, Timothy, Kassam, Rebecca, Tummala, Hemanth, Vulliamy, Thomas J., Dokal, Inderjeet
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2015
Soggetti:
Hematopoiesis and Stem Cells
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4574016/
https://ncbi.nlm.nih.gov/pubmed/26024875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-03-633388
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