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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
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1999 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 21, no 2, 169-75 p.Article in journal (Refereed) Published
Abstract [en]

Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

Place, publisher, year, edition, pages
1999. Vol. 21, no 2, 169-75 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-51346DOI: 10.1038/5951PubMedID: 9988267OAI: oai:DiVA.org:uu-51346DiVA: diva2:79255
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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Klar, JoakimDahl, Niklas

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