Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

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 bee...

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Bibliographic Details
Main Authors: Alvaro Martinez Barrio, Oskar Eriksson, Jitendra Badhai, Anne-Sophie Fröjmark, Erik Bongcam-Rudloff, Niklas Dahl, Jens Schuster
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-07-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2703794?pdf=render

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http://europepmc.org/articles/PMC2703794?pdf=render

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