The Genetic Landscape of Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this heterogeneous disorder, we recruited a cohort of 472 individua...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288280/
https://ncbi.nlm.nih.gov/pubmed/30503522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.027
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados