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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...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703794/ https://www.ncbi.nlm.nih.gov/pubmed/19587786 http://dx.doi.org/10.1371/journal.pone.0006172 |