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Journal Abstract Search

183 related items for PubMed ID: 2788166

  • 1. Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.
    Curiel DT, Holmes MD, Okayama H, Brantly ML, Vogelmeier C, Travis WD, Stier LE, Perks WH, Crystal RG.
    J Biol Chem; 1989 Aug 15; 264(23):13938-45. PubMed ID: 2788166
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  • 3. 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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  • 7. Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.
    Takahashi H, Crystal RG.
    Am J Hum Genet; 1990 Sep 16; 47(3):403-13. PubMed ID: 1975477
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  • 10. 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 16; 63(4):270-80. PubMed ID: 9635295
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  • 11. 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 16; 7(3):321-31. PubMed ID: 10234508
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  • 14. Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state.
    Holmes M, Curiel D, Brantly M, Crystal RG.
    Am Rev Respir Dis; 1989 Dec 16; 140(6):1662-7. PubMed ID: 2481421
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  • 18. Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
    Satoh K, Nukiwa T, Brantly M, Garver RI, Hofker M, Courtney M, Crystal RG.
    Am J Hum Genet; 1988 Jan 16; 42(1):77-83. PubMed ID: 3257351
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  • 19. 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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  • 20. Characterization of the sequence of the normal alpha-1-antitrypsin M3 allele and function of the M3 protein.
    Curiel D, Laubach V, Vogelmeier C, Wurts L, Crystal RG.
    Am J Respir Cell Mol Biol; 1989 Dec 16; 1(6):471-7. PubMed ID: 2637759
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