학술논문
Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.
Document Type
Academic Journal
Author
Bozdogan ST; Department of Medical Genetics, Numune Education And Research Hospital, Adana, Turkey. sevcantb@gmail.com; Unsal C; Erkman H; Genc A; Yuregir OO; Muslumanoglu MH; Aslan H
Source
Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-432X (Electronic) Linking ISSN: 03630269 NLM ISO Abbreviation: Hemoglobin Subsets: MEDLINE
Subject
Language
English
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.