title: A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.
abstract: 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.
authors.affiliation: Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. sarita@sgpgi.ac.in
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
authors.forename: Vandana
authors.initials: V
authors.lastname: Arya
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Stolle
authors.forename: Mandakini
authors.initials: M
authors.lastname: Pradhan
mesh_terms: 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*
chemical_list: D005914:Globins