Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
✍ Scribed by Leana Doherty; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Catherine Clinton; Hal E. Schneider; Colin A. Sieff; Peter E. Newburger; Sarah E. Ball; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Robert J. Arceci; Jason E. Farrar; Eva Atsidaftos; Jeffrey M. Lipton; Pierre-Emmanuel Gleizes; Hanna T. Gazda
- Book ID
- 113422758
- Publisher
- American Society of Human Genetics
- Year
- 2010
- Tongue
- English
- Weight
- 326 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0002-9297
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## Communicated by Sergio Ottolenghi Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies
## Communicated by Johan den Dunnen Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with