Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

BACKGROUND: The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). Mutations in RPS19 coding sequences have been found in 25% of DBA patients, but not in TEC patients. It has be...

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Main Authors: Martinez Barrio, Alvaro, Eriksson, Oskar, Badhai, Jitendra, Fröjmark, Anne-Sophie, Bongcam-Rudloff, Erik, Dahl, Niklas, Schuster, Jens
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2009
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2703794/
https://ncbi.nlm.nih.gov/pubmed/19587786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0006172
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