A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.
This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.
Agarwal
Sarita
S
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. sarita@sgpgi.ac.in
Arya
Vandana
V
Stolle
Catherine A
CA
Pradhan
Mandakini
M
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins