Associated Papers
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS et al.
Nature Medicine, 2014
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I et al.
Human Mutation, 2008
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M et al.
British Journal of Haematology, 2008
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA et al.
Nucleic Acids Research, 2007
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda HT et al.
British Journal of Haematology, 2004
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