Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease...

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Veröffentlicht in:	American journal of human genetics 2010-02, Vol.86 (2), p.222-228
Hauptverfasser:	Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Anemia, Diamond-Blackfan - genetics Anemias. Hemoglobinopathies Base Sequence Biological and medical sciences Diseases of red blood cells Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Hematologic and hematopoietic diseases Human health and pathology Humans Life Sciences Medical genetics Medical sciences Molecular and cellular biology Mutation Mutation - genetics Proteins Ribonucleic acid Ribosomal Proteins - genetics RNA RNA Processing, Post-Transcriptional
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