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.

• Authors: Radek Cmejla, Barbora Ludikova, Martina Sukova, Jan Blatny, Dagmar Pospisilova
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 46 Issue 4 Pg. 300-1 (Apr 15 2011) ISSN: 1096-0961 [Electronic] United States
• PMID: 21414820 (Publication Type: Letter, Research Support, Non-U.S. Gov't)

Chemical References

• RPS26 protein, human
• Ribosomal Proteins

Topics

• Anemia, Diamond-Blackfan (complications, genetics)
• Czech Republic (epidemiology)
• Humans
• Klippel-Feil Syndrome (etiology, genetics)
• Mutation
• Registries
• Ribosomal Proteins (genetics)