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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: Elsevier 2018
Assuntos:
Article
Acceso en liña: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: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares