A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.
R
R
Angalena
K N
KN
Prabitha
A K
AK
Chaudhary
M D
MD
Bashyam
S
S
Jain
A B
AB
Dalal
D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins