Associated Papers
Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.
Papasavva PL et al.
Frontiers in Genetics, 2024
Animal models of Diamond-Blackfan anemia: updates and challenges.
Liu YL et al.
Haematologica, 2023
36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
Song MJ et al.
Pediatric Blood & Cancer, 2010
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Cmejla R et al.
Human Mutation, 2007
Select a paper to view details