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