Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

• 15 November 1999
• journal article
• research article
• Published by Springer Nature in Human Genetics
• Vol. 105  (5) , 496-500
• https://doi.org/10.1007/s004390051136

Abstract

Keywords

• CODON
• NONSENSE MUTATION
• FRAME SHIFT
• CLINICAL EXPRESSION
• AFFECTED FAMILY