Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in czech patients with diamond-blackfan anemia

Abstract

The article presents the identification of mutations in the RPL5 and RPL11 genes in patients from the Czech DBA Registry. Mutations in RPL5 were identified in eight patients from 6 out of 28 families (21.4%), and mutations in RPL11 in two patients from 2 out of 28 families (7.1%)

Keywords

• Ribosomal protein L5
• ribosomal protein L11
• RPL11
• ribosomal protein L23
• RPL23
• Diamond-Blackfan anemia
• DBA