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Journal Abstract Search

512 related items for PubMed ID: 24183282

  • 21. 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; 51(9-10):677-85. PubMed ID: 23666394
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  • 22. 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; 116():8-18. PubMed ID: 27296815
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  • 27. [Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].
    Jardí R, Rodríguez-Frías F, Casas F, Cotrina M, Vidal R, Miravitlles M, Pascual C.
    Med Clin (Barc); 1997 Oct 11; 109(12):463-6. PubMed ID: 9441182
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  • 28. Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis.
    Lodewyckx L, Vandevyver C, Vandervorst C, Van Steenbergen W, Raus J, Michiels L.
    Hum Mutat; 2001 Sep 11; 18(3):243-50. PubMed ID: 11524735
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  • 29. Rare alpha-1-antitrypsin variants: are they really so rare?
    Rodriguez-Frias F, Miravitlles M, Vidal R, Camos S, Jardi R.
    Ther Adv Respir Dis; 2012 Apr 11; 6(2):79-85. PubMed ID: 22291048
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  • 33. Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case.
    Tubío-Pérez RA, Blanco-Pérez M, Ramos-Hernández C, Torres-Durán M.
    Arch Bronconeumol (Engl Ed); 2018 Apr 11; 54(4):228-230. PubMed ID: 29122334
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  • 34. α-1 Antitrypsin Genotype-Phenotype Discrepancy in a 42-Year-Old Man Who Carries the Null-Allele.
    Pavičić T, Ćelap I, Njegovan M, Tešija Kuna A, Štefanović M.
    Lab Med; 2020 May 06; 51(3):301-305. PubMed ID: 31583408
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  • 35. Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.
    Hernández-Pérez JM, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez JA.
    Pulmonology; 2023 May 06; 29(3):214-220. PubMed ID: 35346640
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  • 39. Incidence of alpha-1 antitrypsin Z and S alleles in patients with granulomatosis with polyangiitis--pilot study.
    Chorostowska-Wynimko J, Gawryluk D, Struniawski R, Popławska B, Fijołek J.
    Pneumonol Alergol Pol; 2013 May 06; 81(4):319-22. PubMed ID: 23744167
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