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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Blood
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2015
Gaiak:
Hematopoiesis and Stem Cells
Sarrera elektronikoa: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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