Associated Papers
Molecular dynamics insights into novel and nano-rare de novo mutations in the ribosomal proteins S19 and L26 causing Diamond-Blackfan anemia in Iranian patients.
Khosravi T et al.
Journal of Biomolecular Structure & Dynamics, 2025
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Karger LM et al.
American Journal of Medical Genetics. Part A, 2025
Animal models of Diamond-Blackfan anemia: updates and challenges.
Liu YL et al.
Haematologica, 2023
36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf
Novel ribosomal protein L26 variant and modeling in a patient with Diamond-Blackfan anemia: Case report.
Peñaloza D et al.
Pediatric Blood & Cancer, 2023
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT et al.
Human Mutation, 2012
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