caa a22 4500 467984158 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208941 doi (NATIONALLICENCE)springer-10.1007/BF00208941 Molecular basis of β-thalassemia in Turkey: detection of rare mutations by direct sequencing [Elektronische Daten] [C. Aulehla-Scholz, S. Basaran, L. Agaoglu, A. Arcasoy, W. Holzgreve, P. Miny, F. Ridolfi, J. Horst] Summary: Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for β-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift at codon 8 were the most frequent. By direct sequencing we characterized two very rare mutations not previously reported in the Turkish population: a frameshift +1 at codons 9/10 and a nonsense mutation at codon 15. Springer-Verlag, 1990 Aulehla-Scholz C. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut Basaran S. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut Agaoglu L. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut Arcasoy A. Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey aut Holzgreve W. Universitäts-Frauenklinik, Albert-Schweitzer-Strasse 33, D-4400, Münster, Germany aut Miny P. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut Ridolfi F. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut Horst J. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut Human Genetics Springer-Verlag 84/2(1990-01-01), 195-197 0340-6717 84:2<195 1990 84 439 https://doi.org/10.1007/BF00208941 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208941 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Aulehla-Scholz C. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut NATIONALLICENCE 700 1- Basaran S. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut NATIONALLICENCE 700 1- Agaoglu L. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut NATIONALLICENCE 700 1- Arcasoy A. Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey aut NATIONALLICENCE 700 1- Holzgreve W. Universitäts-Frauenklinik, Albert-Schweitzer-Strasse 33, D-4400, Münster, Germany aut NATIONALLICENCE 700 1- Miny P. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut NATIONALLICENCE 700 1- Ridolfi F. Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey aut NATIONALLICENCE 700 1- Horst J. Institut für Humangenetik der Universität, Vesaliusweg 12-14, D-4400, Münster, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 195-197 0340-6717 84:2<195 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer