A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia
Journal of Pediatric Hematology/Oncology, 05/14/2012
Yazaki M et al. – The authors screened the Diamond–Blackfan anemia (DBA) patients who were negative for mutations in these DBA genes for mutations in RPS10 and RPS26. The present case report describes the identification of the first Japanese DBA patient with a novel mutation in RPS10.