Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
Open Access
- 1 June 2019
- journal article
- letter
- Published by Wiley in British Journal of Haematology
- Vol. 185 (5), 994-998
- https://doi.org/10.1111/bjh.15688
Abstract
No abstract availableKeywords
Funding Information
- Fondazione Umberto Veronesi
- Diamond Blackfan Anemia Foundation
This publication has 10 references indexed in Scilit:
- Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemiaHaematologica, 2018
- An update on the pathogenesis and diagnosis of Diamond–Blackfan anemiaF1000Research, 2018
- Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patientHaematologica, 2017
- Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan AnaemiaBritish Journal of Haematology, 2016
- A genomic view of mosaicism and human diseaseNature Reviews Genetics, 2013
- Ribosomal protein gene deletions in Diamond-Blackfan anemiaBlood, 2011
- Diamond Blackfan Anemia Treatment: Past, Present, and FutureSeminars in Hematology, 2011
- How I treat Diamond-Blackfan anemiaBlood, 2010
- Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosomeHuman Molecular Genetics, 2007
- Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian PopulationBlood Cells, Molecules, and Diseases, 2000