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2 Possible Causes for Mutation in the Ribosomal Protein S29 Gene

  • Diamond-Blackfan Anemia Type 13

    Professor Robert Arceci is a world leader in the care of children with leukaemia and especially acute myeloid leukaemia. He edits the main Paediatric Haematology and Oncology journal, ‘Pediatric Blood & Cancer’ and his research is mainly into new agents for leukaemia therapy and the scientific basis for their actions.[…][books.google.ro]

  • Diamond-Blackfan Anemia

    Approximately half of DBA patients have a germ-line mutation in a ribosomal protein gene.[ncbi.nlm.nih.gov] After filtering, 1 nonsynonymous mutation (p.I31F) in the ribosomal protein S29 (RPS29[AUQ1]) gene was present in all 5 DBA-affected individuals and the obligate carrier,[ncbi.nlm.nih.gov] We used whole-exome sequencing to identify disease-causing genes in 2 large DBA families.[ncbi.nlm.nih.gov]

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