TY  - GEN
AU  - Tripathi,Poonam
AU  - Agarwal,Sarita
AU  - Gupta,Anshul
AU  - Mandal,Kausik
TI  - Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia
SN  - 1432-0584
PY  - 2020///1105
KW  - Base Sequence
KW  - Chromatography, High Pressure Liquid
KW  - Codon, Nonsense
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Homozygote
KW  - Humans
KW  - India
KW  - Infant
KW  - Pedigree
KW  - Sequence Deletion
KW  - beta-Globins
KW  - beta-Thalassemia
KW  - epidemiology
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1007/s00277-020-04017-2
ER  -