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Journal Abstract Search

162 related items for PubMed ID: 6600898

  • 1. Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin.
    Sproule BJ, Cox DW, Hsu K, Salkie ML, Herbert FA.
    Am Rev Respir Dis; 1983 Feb; 127(2):237-40. PubMed ID: 6600898
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 7(3):321-31. PubMed ID: 10234508
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.
    Silverman EK, Pierce JA, Province MA, Rao DC, Campbell EJ.
    Ann Intern Med; 1989 Dec 15; 111(12):982-91. PubMed ID: 2596778
    [Abstract] [Full Text] [Related]

  • 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 15; 93(1):181-7. PubMed ID: 3034714
    [Abstract] [Full Text] [Related]

  • 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 15; 83(4):377-82. PubMed ID: 2807278
    [Abstract] [Full Text] [Related]

  • 13. Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes.
    Cox DW, Billingsley GD.
    Am J Hum Genet; 1989 Jun 15; 44(6):844-54. PubMed ID: 2786333
    [Abstract] [Full Text] [Related]

  • 14. Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?
    Beckman G, Stjernberg NL, Eklund A.
    Clin Genet; 1984 Jun 15; 25(6):491-5. PubMed ID: 6610506
    [Abstract] [Full Text] [Related]

  • 15. Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.
    Turino GM, Barker AF, Brantly ML, Cohen AB, Connelly RP, Crystal RG, Eden E, Schluchter MD, Stoller JK.
    Am J Respir Crit Care Med; 1996 Dec 15; 154(6 Pt 1):1718-25. PubMed ID: 8970361
    [Abstract] [Full Text] [Related]

  • 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 15; 83(4):1144-52. PubMed ID: 2539391
    [Abstract] [Full Text] [Related]

  • 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 15; 69(5):509-13. PubMed ID: 306745
    [Abstract] [Full Text] [Related]

  • 18. The prevalence of alpha-antitrypsin heterozygotes (Pi MZ) in patients with obstructive pulmonary disease.
    Shigeoka JW, Hall WJ, Hyde RW, Schwartz RH, Mudholkar GS, Speers DM, Lin CC.
    Am Rev Respir Dis; 1976 Dec 15; 114(6):1077-84. PubMed ID: 1087539
    [Abstract] [Full Text] [Related]

  • 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 15; 80(5):1366-74. PubMed ID: 3500183
    [Abstract] [Full Text] [Related]

  • 20. Chronic obstructive pulmonary disease and alpha-1-antitrypsin (Pi) variation: a family study.
    Benjamin JJ, Cohen BH, Ball WC, Levy DA, Menkes HA, Kreiss P.
    Birth Defects Orig Artic Ser; 1974 Nov 15; 10(4):212-6. PubMed ID: 4549777
    [Abstract] [Full Text] [Related]

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