## 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
The ribosomal basis of diamond-blackfan anemia: mutation and database update
✍ Scribed by Ilenia Boria; Emanuela Garelli; Hanna T. Gazda; Anna Aspesi; Paola Quarello; Elisa Pavesi; Daniela Ferrante; Joerg J. Meerpohl; Mutlu Kartal; Lydie Da Costa; Alexis Proust; Thierry Leblanc; Maud Simansour; Niklas Dahl; Anne-Sophie Fröjmark; Dagmar Pospisilova; Radek Cmejla; Alan H. Beggs; Mee R. Sheen; Michael Landowski; Christopher M. Buros; Catherine M. Clinton; Lori J. Dobson; Adrianna Vlachos; Eva Atsidaftos; Jeffrey M. Lipton; Steven R. Ellis; Ugo Ramenghi; Irma Dianzani
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 226 KB
- Volume
- 31
- Category
- Article
- ISSN
- 1059-7794
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Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding th
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are fo
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