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
Autor: | Jan Blatny, Radek Cmejla, Barbora Ludikova, Dagmar Pospisilova, Martina Sukova |
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Rok vydání: | 2011 |
Předmět: |
Ribosomal Proteins
Pediatrics medicine.medical_specialty business.industry Anemia Klippel–Feil syndrome Cell Biology Hematology medicine.disease Klippel-Feil Syndrome Ribosomal protein Mutation Cancer research Humans Molecular Medicine Medicine Registries Diamond–Blackfan anemia business Molecular Biology Gene Anemia Diamond-Blackfan Czech Republic |
Zdroj: | Blood Cells, Molecules, and Diseases. 46:300-301 |
ISSN: | 1079-9796 |
DOI: | 10.1016/j.bcmd.2011.02.003 |
Databáze: | OpenAIRE |
Externí odkaz: |