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Journal Abstract Search

201 related items for PubMed ID: 2254451

  • 41.
    ; . PubMed ID:
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  • 42. Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening.
    Kaczor MP, Sanak M, Szczeklik A.
    J Mol Diagn; 2007 Feb; 9(1):99-104. PubMed ID: 17251342
    [Abstract] [Full Text] [Related]

  • 43. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.
    Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M, Crystal RG.
    J Biol Chem; 1986 Dec 05; 261(34):15989-94. PubMed ID: 3491072
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  • 44.
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  • 45. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
    Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S.
    Respir Med; 2016 Jul 05; 116():8-18. PubMed ID: 27296815
    [Abstract] [Full Text] [Related]

  • 46. Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
    Vidaud D, Emmerich J, Alhenc-Gelas M, Yvart J, Fiessinger JN, Aiach M.
    J Clin Invest; 1992 May 05; 89(5):1537-43. PubMed ID: 1569192
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  • 47.
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  • 48. Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
    Okayama H, Brantly M, Holmes M, Crystal RG.
    Am J Hum Genet; 1991 Jun 05; 48(6):1154-8. PubMed ID: 2035534
    [Abstract] [Full Text] [Related]

  • 49. Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
    Hernández Pérez JM, Ramos Díaz R, Fumero García S, Pérez Pérez JA.
    Arch Bronconeumol; 2015 Jan 05; 51(1):e1-3. PubMed ID: 24673984
    [Abstract] [Full Text] [Related]

  • 50. PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.
    Denden S, Lakhdar R, Keskes NB, Hamdaoui MH, Chibani JB, Khelil AH.
    Biochem Genet; 2013 Oct 05; 51(9-10):677-85. PubMed ID: 23666394
    [Abstract] [Full Text] [Related]

  • 51.
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  • 52. 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 05; 142(5):1015-21. PubMed ID: 2240821
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  • 53.
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  • 54. What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.
    Kalsheker N, Hayes K, Weidinger S, Graham A.
    J Med Genet; 1992 Jan 05; 29(1):27-9. PubMed ID: 1552539
    [Abstract] [Full Text] [Related]

  • 55. Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles.
    Prins J, van der Meijden BB, Kraaijenhagen RJ, Wielders JP.
    Clin Chem; 2008 Jan 05; 54(1):101-7. PubMed ID: 18024524
    [Abstract] [Full Text] [Related]

  • 56. Molecular basis, clinical consequences and diagnosis of alpha-1 antitrypsin deficiency.
    Norman MR, Mowat AP, Hutchison DC.
    Ann Clin Biochem; 1997 May 05; 34 ( Pt 3)():230-46. PubMed ID: 9158819
    [Abstract] [Full Text] [Related]

  • 57. Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype.
    Nukiwa T, Brantly M, Ogushi F, Fells G, Satoh K, Stier L, Courtney M, Crystal RG.
    Biochemistry; 1987 Aug 25; 26(17):5259-67. PubMed ID: 2890373
    [Abstract] [Full Text] [Related]

  • 58. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.
    Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y.
    Am J Hum Genet; 1990 Mar 25; 46(3):602-12. PubMed ID: 2309708
    [Abstract] [Full Text] [Related]

  • 59. [Diagnosis of alpha-1 antitrypsin deficiency: limitations of rapid diagnostic laboratory tests].
    Rodríguez-Frías F, Vila-Auli B, Homs-Riba M, Vidal-Pla R, Calpe-Calpe JL, Jardi-Margalef R.
    Arch Bronconeumol; 2011 Aug 25; 47(8):415-7. PubMed ID: 21470755
    [Abstract] [Full Text] [Related]

  • 60. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.
    Weidinger S, Jahn W, Cujnik F, Schwarzfischer F.
    Hum Genet; 1985 Aug 25; 71(1):27-9. PubMed ID: 3875547
    [Abstract] [Full Text] [Related]

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