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pro vyhledávání: '"Maria del Pilar F. Ibanez"'
Autor:
Judith C.W. Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria del Pilar F. Ibanez, Flávia S. Donaires, João P. Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E. Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G. Kulasekararaj, Donal P. McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S. Young, Rodrigo T. Calado, Danielle M. Townsley, Ghulam J Mufti
Publikováno v:
Blood Advances, Vol 2, Iss 1, Pp 36-48 (2018)
Abstract: 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 an
Externí odkaz:
https://doaj.org/article/ed241c993a0c49d0916d090e2dcddf29
