## 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
Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia
β Scribed by Hanna T. Gazda; Agnieszka Grabowska; Lilia B. Merida-Long; Elzbieta Latawiec; Hal E. Schneider; Jeffrey M. Lipton; Adrianna Vlachos; Eva Atsidaftos; Sarah E. Ball; Karen A. Orfali; Edyta Niewiadomska; Lydie Da Costa; Gil Tchernia; Charlotte Niemeyer; Joerg J. Meerpohl; Joachim Stahl; Gerhard Schratt; Bertil Glader; Karen Backer; Carolyn Wong; David G. Nathan; Alan H. Beggs; Colin A. Sieff
- Book ID
- 117854945
- Publisher
- American Society of Human Genetics
- Year
- 2006
- Tongue
- English
- Weight
- 572 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/510020
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## 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