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Journal Abstract Search

162 related items for PubMed ID: 6600898

  • 1.
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  • 2. A family study of the variability of pulmonary function in alpha 1-antitrypsin deficiency. Quantitative phenotypes.
    Silverman EK, Province MA, Rao DC, Pierce JA, Campbell EJ.
    Am Rev Respir Dis; 1990 Nov; 142(5):1015-21. PubMed ID: 2240821
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  • 3. Family study of alpha 1-antitrypsin deficiency: effects of cigarette smoking, measured genotype, and their interaction on pulmonary function and biochemical traits.
    Silverman EK, Province MA, Campbell EJ, Pierce JA, Rao DC.
    Genet Epidemiol; 1992 Nov; 9(5):317-31. PubMed ID: 1427021
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  • 5. 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; 7(3):321-31. PubMed ID: 10234508
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  • 6. 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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  • 7. 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 Sep 03; 2(3):221-8. PubMed ID: 8364590
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  • 8. Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.
    Joly P, Guillaud O, Hervieu V, Francina A, Mornex JF, Chapuis-Cellier C.
    Orphanet J Rare Dis; 2015 Oct 07; 10():130. PubMed ID: 26446624
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  • 9. Physiological studies in a large sibship with antitrypsin deficiency.
    Duncan PE, Griffin JP.
    Br J Dis Chest; 1975 Apr 07; 69(2):107-17. PubMed ID: 49190
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  • 11. Diffuse hepatocellular dysplasia and carcinoma associated with the Mmalton variant of alpha 1-antitrypsin.
    Reid CL, Wiener GJ, Cox DW, Richter JE, Geisinger KR.
    Gastroenterology; 1987 Jul 07; 93(1):181-7. PubMed ID: 3034714
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  • 12. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton.
    Fraizer GC, Siewertsen M, Harrold TR, Cox DW.
    Hum Genet; 1989 Nov 07; 83(4):377-82. PubMed ID: 2807278
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  • 16. 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 07; 83(4):1144-52. PubMed ID: 2539391
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  • 17. Pi-Z phenotypes in a pulmonary clinic. Their prevalence and physiologic state.
    Gerblich AA, Kleinerman J, Rynbrandt DJ, Chester EH, Ihrig J.
    Am J Clin Pathol; 1978 May 07; 69(5):509-13. PubMed ID: 306745
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  • 19. Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.
    Ogushi F, Fells GA, Hubbard RC, Straus SD, Crystal RG.
    J Clin Invest; 1987 Nov 07; 80(5):1366-74. PubMed ID: 3500183
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