caa a22 4500 467985197 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206766 doi (NATIONALLICENCE)springer-10.1007/BF00206766 Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant [Elektronische Daten] [Alexander Graham, Karen Hayes, Sebastian Weidinger, Clive Newton, Alexander Markham, Noor Kalsheker] Summary: By sequence analysis of the complete proteincoding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Va1213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion. Springer-Verlag, 1990 Graham Alexander Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut Hayes Karen Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut Weidinger Sebastian Institut für Anthropologie und Humangenetik der Universität, Richard-Wagner-Strasse 10/I, D-8000, München, Federal Republic of Germany aut Newton Clive Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut Markham Alexander Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut Kalsheker Noor Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut Human Genetics Springer-Verlag 85/3(1990-08-01), 381-382 0340-6717 85:3<381 1990 85 439 https://doi.org/10.1007/BF00206766 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206766 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Graham Alexander Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut NATIONALLICENCE 700 1- Hayes Karen Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut NATIONALLICENCE 700 1- Weidinger Sebastian Institut für Anthropologie und Humangenetik der Universität, Richard-Wagner-Strasse 10/I, D-8000, München, Federal Republic of Germany aut NATIONALLICENCE 700 1- Newton Clive Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut NATIONALLICENCE 700 1- Markham Alexander Department of Biotechnology, ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut NATIONALLICENCE 700 1- Kalsheker Noor Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 381-382 0340-6717 85:3<381 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer