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Journal Abstract Search

505 related items for PubMed ID: 28947017

  • 1. Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.
    Hernández-Pérez JM, Ramos-Díaz R, Pérez JA.
    Respir Med; 2017 Oct; 131():114-117. PubMed ID: 28947017
    [Abstract] [Full Text] [Related]

  • 2. 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 Oct; 29(3):214-220. PubMed ID: 35346640
    [Abstract] [Full Text] [Related]

  • 3. Identification and characterisation of eight novel SERPINA1 Null mutations.
    Ferrarotti I, Carroll TP, Ottaviani S, Fra AM, O'Brien G, Molloy K, Corda L, Medicina D, Curran DR, McElvaney NG, Luisetti M.
    Orphanet J Rare Dis; 2014 Nov 26; 9():172. PubMed ID: 25425243
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  • 7. 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 26; 116():8-18. PubMed ID: 27296815
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  • 8. Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.
    Zhan SH, Abboud RT, Jung B, Kuchinka B, Ralston D, Casey B, Mattman A.
    Clin Biochem; 2012 Apr 26; 45(6):499-501. PubMed ID: 22330941
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  • 9. Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.
    Duk K, Zdral A, Szumna B, Roży A, Chorostowska-Wynimko J.
    Adv Exp Med Biol; 2016 Apr 26; 910():47-53. PubMed ID: 26987331
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  • 10. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.
    Ljujic M, Topic A, Divac A, Nikolic A, Petrovic-Stanojevic N, Surlan M, Mitic-Milikic M, Radojkovic D.
    Transl Res; 2008 May 26; 151(5):255-9. PubMed ID: 18433707
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  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Stoller JK, Hupertz V, Aboussouan LS.
    ; 1993 May 26. PubMed ID: 20301692
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  • 15. 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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  • 16. Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
    Matamala N, Martínez MT, Lara B, Pérez L, Vázquez I, Jimenez A, Barquín M, Ferrarotti I, Blanco I, Janciauskiene S, Martinez-Delgado B.
    J Transl Med; 2015 Jul 04; 13():211. PubMed ID: 26141700
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  • 17. Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
    Kueppers F, Andrake MD, Xu Q, Dunbrack RL, Kim J, Sanders CL.
    BMC Med Genet; 2019 Jul 15; 20(1):125. PubMed ID: 31307431
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  • 18. [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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  • 19. Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
    Lara B, Martínez-Delgado B, Torres ML, Marín-Arguedas S, Bustamante A, Miravitlles M.
    Arch Bronconeumol; 2013 Dec 11; 49(12):548-50. PubMed ID: 24183282
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