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Journal Abstract Search


185 related items for PubMed ID: 8364536

  • 1. Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing.
    Laubach VE, Ryan WJ, Brantly M.
    Hum Mol Genet; 1993 Jul; 2(7):1001-5. PubMed ID: 8364536
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  • 2. Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.
    Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M.
    Mol Genet Metab; 1998 Apr; 63(4):270-80. PubMed ID: 9635295
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  • 3. Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.
    Curiel D, Brantly M, Curiel E, Stier L, Crystal RG.
    J Clin Invest; 1989 Apr; 83(4):1144-52. PubMed ID: 2539391
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  • 6. Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.
    Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M.
    Hum Mutat; 1993 Apr; 2(3):221-8. PubMed ID: 8364590
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  • 7. Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.
    Holmes MD, Brantly ML, Fells GA, Crystal RG.
    Biochem Biophys Res Commun; 1990 Aug 16; 170(3):1013-20. PubMed ID: 2390072
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  • 11. A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.
    Frazier GC, Siewertsen MA, Hofker MH, Brubacher MG, Cox DW.
    J Clin Invest; 1990 Dec 16; 86(6):1878-84. PubMed ID: 2254451
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  • 14. Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
    Holmes MD, Brantly ML, Crystal RG.
    Am Rev Respir Dis; 1990 Nov 16; 142(5):1185-92. PubMed ID: 2240842
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  • 17. Characterization of the coding sequence of the normal M4 alpha 1-antitrypsin gene.
    Okayama H, Holmes MD, Brantly ML, Crystal RG.
    Biochem Biophys Res Commun; 1989 Aug 15; 162(3):1560-70. PubMed ID: 2788414
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  • 18. Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles.
    Poller W, Faber JP, Olek K.
    Klin Wochenschr; 1990 Sep 03; 68(17):857-63. PubMed ID: 2214609
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  • 19. Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).
    Poller W, Merklein F, Schneider-Rasp S, Haack A, Fechner H, Wang H, Anagnostopoulos I, Weidinger S.
    Eur J Hum Genet; 1999 Apr 03; 7(3):321-31. PubMed ID: 10234508
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  • 20. Comparison of alpha-1-antitrypsin levels and antineutrophil elastase capacity of blood and lung in a patient with the alpha-1-antitrypsin phenotype null-null before and during alpha-1-antitrypsin augmentation therapy.
    Wewers MD, Casolaro MA, Crystal RG.
    Am Rev Respir Dis; 1987 Mar 03; 135(3):539-43. PubMed ID: 3493719
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