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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

✍ Scribed by Dahl, Niklas; Draptchinskaia, Natalia; Gustavsson, Peter; Andersson, Björn; Pettersson, Monica; Willig, Thiébaut-Noël; Dianzani, Irma; Ball, Sarah; Tchernia, Gil; Klar, Joakim; Matsson, Hans; Tentler, Dimitri; Mohandas, Narla; Carlsson, Birgit

Book ID
109826757
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
464 KB
Volume
21
Category
Article
ISSN
1061-4036

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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