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301 related items for PubMed ID: 23666394

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.
    Denden S, Lakhdar R, Leban N, Ben Chibani J, Haj Khelil A.
    Mol Biotechnol; 2010 Jun; 45(2):111-5. PubMed ID: 20108056
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.
    Belmonte I, Barrecheguren M, López-Martínez RM, Esquinas C, Rodríguez E, Miravitlles M, Rodríguez-Frías F.
    Int J Chron Obstruct Pulmon Dis; 2016 Oct 07; 11():2535-2541. PubMed ID: 27877030
    [Abstract] [Full Text] [Related]

  • 5. Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.
    Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S.
    Am J Respir Crit Care Med; 1995 Dec 07; 152(6 Pt 1):2119-26. PubMed ID: 8520784
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  • 6. 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 07; 6(2):79-85. PubMed ID: 22291048
    [Abstract] [Full Text] [Related]

  • 7. Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens.
    Rodriguez F, Jardí R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M.
    Am J Respir Crit Care Med; 2002 Sep 15; 166(6):814-7. PubMed ID: 12231490
    [Abstract] [Full Text] [Related]

  • 8. Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.
    Lucotte G, Sesboüé R.
    Mol Cell Probes; 1999 Oct 15; 13(5):389-91. PubMed ID: 10508561
    [Abstract] [Full Text] [Related]

  • 9. Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.
    Suárez-Lorenzo I, Hernández-Brito E, Almeida-Quintana L, Llanos CG, González-Quevedo N, Carrillo-Díaz T, Rodríguez-Gallego C.
    J Asthma; 2022 Jul 15; 59(7):1372-1375. PubMed ID: 34152895
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 9(1):99-104. PubMed ID: 17251342
    [Abstract] [Full Text] [Related]

  • 11. Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world.
    Spínola C, Bruges-Armas J, Pereira C, Brehm A, Spínola H.
    Respir Med; 2009 Oct 15; 103(10):1498-502. PubMed ID: 19450958
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR.
    Struniawski R, Szpechcinski A, Poplawska B, Skronski M, Chorostowska-Wynimko J.
    Adv Exp Med Biol; 2013 May 06; 756():29-37. PubMed ID: 22836616
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  • 16. Alpha-antitrypsin genotypes in Korean patients with chronic obstructive pulmonary disease.
    Kim CH, Yim JJ, Yoo CG, Lee CT, Kim YW, Han SK, Shim YS.
    Respirology; 2005 Mar 06; 10(2):223-8. PubMed ID: 15823189
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  • 19. Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?
    Beletic A, Dudvarski-Ilic A, Milenkovic B, Nagorni-Obradovic L, Ljujic M, Djordjevic V, Mirkovic D, Radojkovic D, Majkic-Singh N.
    Biochem Med (Zagreb); 2014 Mar 06; 24(2):293-8. PubMed ID: 24969923
    [Abstract] [Full Text] [Related]

  • 20. Alpha-1-antitrypsin deficiency in the Cape Verde islands (Northwest Africa): High prevalence in a sub-Saharan population.
    Spínola C, Brehm A, Spínola H.
    Respir Med; 2010 Jul 06; 104(7):1069-72. PubMed ID: 20226649
    [Abstract] [Full Text] [Related]

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