A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband.
Jain
P K
PK
Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.
Dozy
A M
AM
Verma
I C
IC
Chehab
F F
FF
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins