Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

Abstract

For a decade, ribosomal proteins (RP) have attractedmuch attention from hematologists since a mutation in the RPS19 gene was first discovered in a Diamond–Blackfan anemia (DBA) patient. DBA is a congenital red cell aplasia that is usually diagnosed during early infancy, and strikingly, in addition todefects in red cellmaturation thedisorder is associated… (More)
DOI: 10.1016/j.bcmd.2011.02.003

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Cite this paper

@article{Cmejla2011CanMI, title={Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.}, author={Radek Cmejla and Barbora Ludikova and Martina Sukov{\'a} and J. Blatn{\'y} and Dagmar Posp{\'i}{\vs}ilov{\'a}}, journal={Blood cells, molecules & diseases}, year={2011}, volume={46 4}, pages={300-1} }