title: Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.
abstract: Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.
authors.affiliation: Department of Medical Genetics, Numune Education And Research Hospital, Adana, Turkey. sevcantb@gmail.com
authors.forename: Sevcan Tug
authors.initials: ST
authors.lastname: Bozdogan
authors.forename: Cagatay
authors.initials: C
authors.lastname: Unsal
authors.forename: Hakan
authors.initials: H
authors.lastname: Erkman
authors.forename: Ahmet
authors.initials: A
authors.lastname: Genc
authors.forename: Ozge Ozalp
authors.initials: OO
authors.lastname: Yuregir
authors.forename: Muhammed Hamza
authors.initials: MH
authors.lastname: Muslumanoglu
authors.forename: Huseyin
authors.initials: H
authors.lastname: Aslan
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D014421:Turkey; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D055544:beta-Globins