Tripathi, Poonam

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