Associated Papers
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.
An K et al.
Frontiers in Genetics, 2021
Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report.
Yoo YS et al.
Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A et al.
Haematologica, 2008
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
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M et al.
Human Molecular Genetics, 2007
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA et al.
Nucleic Acids Research, 2007
Select a paper to view details