Communicated by Stylianos E. Antonarakis
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond–blackfan anemia†
Article first published online: 16 APR 2012
© 2012 Wiley-Liss, Inc.
Volume 33, Issue 7, pages 1037–1044, July 2012
How to Cite
Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E. and Beggs, A. H. (2012), Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond–blackfan anemia. Hum. Mutat., 33: 1037–1044. doi: 10.1002/humu.22081
- Issue published online: 5 JUN 2012
- Article first published online: 16 APR 2012
- Accepted manuscript online: 19 MAR 2012 10:17AM EST
- Manuscript Accepted: 6 MAR 2012
- Manuscript Received: 7 NOV 2011
- Diamond–Blackfan Anemia Foundation (H.T.G.); The Manton Center for Orphan Disease Research (H.T.G.); NIH R01HL107558 (H.T.G.); NIH R01AR044345 (A.H.B.); NIH R01HL079571 (A.V., E.A., J.M.L.); the Centers for Disease Control and Prevention (A.V.); the Pediatric Cancer Foundation (J.M.L.); the Agence Nationale de la Recherche (ANR-RIBOCRASH program) (P.E.G.); Children's Hospital Boston Program in Genomics and the Molecular Genetics Core Facility; Developmental Disabilities Research Center (NIH P30 HD18655); the Harvard Neuromuscular Disease Project (NIH P50 NS040828).
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