Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia. [electronic resource]
- Annals of hematology Nov 2020
- 2719-2722 p. digital
Publication Type: Case Reports; Letter
1432-0584
10.1007/s00277-020-04017-2 doi
Base Sequence Chromatography, High Pressure Liquid Codon, Nonsense--genetics Female Frameshift Mutation Homozygote Humans India Infant Pedigree Sequence Deletion beta-Globins--genetics beta-Thalassemia--epidemiology