caa a22 4500 467985766 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194233 doi (NATIONALLICENCE)springer-10.1007/BF00194233 Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) NullNewport (Gly115→Ser) and (Pi) Z Wrexham (Ser−19→Leu) [Elektronische Daten] [Alexander Graham, Noor Kalsheker, Fiona Bamforth, Clive Newton, Alexander Markham] Summary: Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115→Ser and Ser−19→Leu, in the leader sequence, respectively, and have been designated Pi NullNewport and Pi Z Wrexham. In the two families studied the mutations occur on chromosomes which also carry the common mutation causing Z deficiency. Individuals with such a deficiency are, therefore, compound heterozygotes. It is not known if these particular mutations would only cause a mild form of AAT deficiency in the absence of the Z mutation as they do not appear to cause predictable folding abnormalities. They do, however, result in severe deficiency when the Z mutation occurs in the same gene. Springer-Verlag, 1990 Graham Alexander 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 Bamforth Fiona Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut Newton Clive ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut Markham Alexander ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut Human Genetics Springer-Verlag 85/5(1990-10-01), 537-540 0340-6717 85:5<537 1990 85 439 https://doi.org/10.1007/BF00194233 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194233 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Graham Alexander 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 700 1- Bamforth Fiona Department of Medical Biochemistry, University of Wales College of Medicine, Newport Road, CF2 1SZ, Cardiff, UK aut NATIONALLICENCE 700 1- Newton Clive ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut NATIONALLICENCE 700 1- Markham Alexander ICI Pharmaceuticals, Alderley Park, SK10 4TG, Macclesfield, Cheshire, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 537-540 0340-6717 85:5<537 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer