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Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

✍ Scribed by H. Matsson; J. Klar; N. Draptchinskaia; P. Gustavsson; B. Carlsson; D. Bowers; E. de Bont; N. Dahl


Book ID
106137315
Publisher
Springer
Year
1999
Tongue
English
Weight
206 KB
Volume
105
Category
Article
ISSN
0340-6717

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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

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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

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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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## 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