Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms

Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTE...

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: Marsh, Judith C. W., Gutierrez-Rodrigues, Fernanda, Cooper, James, Jiang, Jie, Gandhi, Shreyans, Kajigaya, Sachiko, Feng, Xingmin, Ibanez, Maria del Pilar F., Donaires, Flávia S., Lopes da Silva, João P., Li, Zejuan, Das, Soma, Ibanez, Maria, Smith, Alexander E., Lea, Nicholas, Best, Steven, Ireland, Robin, Kulasekararaj, Austin G., McLornan, Donal P., Pagliuca, Anthony, Callebaut, Isabelle, Young, Neal S., Calado, Rodrigo T., Townsley, Danielle M., Mufti, Ghulam J
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2018
Assuntos:
Hematopoiesis and Stem Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5761623/
https://ncbi.nlm.nih.gov/pubmed/29344583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2017008110
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