Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

Author:

Angelini Mara,Cannata Stefano,Mercaldo Valentina,Gibello Luisa,Santoro Claudio,Dianzani Irma,Loreni Fabrizio

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference29 articles.

1. The gene encoding ribosomal protein S19 is mutated in Diamond–Blackfan anaemia;Draptchinskaia;Nat. Genet.,1999

2. Diamond–Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population;Ramenghi;Blood Cells. Mol. Dis.,2000

3. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression;Willig;Blood,1999

4. Molecular basis of Diamond–Blackfan anemia: new findings from the Italian registry and a review of the literature;Campagnoli;Haematologica,2004

5. Diamond–Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort;Ball;Br. J. Haematol.,1996

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