A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.

Angalena, R

A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major. [electronic resource] - International journal of laboratory hematology Oct 2010 - 548-9 p. digital

Publication Type: Case Reports; Letter

1751-553X

10.1111/j.1751-553X.2009.01217.x doi


Child
Female
Homozygote
Humans
Point Mutation
beta-Globins--genetics
beta-Thalassemia--genetics