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Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations.
Pulmonology. 2023 May 24:S2531-0437(23)00091-0. doi: 10.1016/j.pulmoe.2023.05.002. Online ahead of print.
Pulmonology. 2023.
PMID: 37236906
Free article.
Molecular characterization of PI*Q0la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants.
Hernández-Pérez JM, Ramos-Díaz R, Fumero-García S, Pérez JA.
Hernández-Pérez JM, et al.
Clin Genet. 2017 Jun;91(6):927-928. doi: 10.1111/cge.12889. Epub 2016 Nov 24.
Clin Genet. 2017.
PMID: 27882547
No abstract available.
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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.
Hernández-Pérez JM, et al.
Respir Med. 2017 Oct;131:114-117. doi: 10.1016/j.rmed.2017.08.015. Epub 2017 Aug 16.
Respir Med. 2017.
PMID: 28947017
Free article.
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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.
Hernández-Pérez JM, et al.
Pulmonology. 2023 May-Jun;29(3):214-220. doi: 10.1016/j.pulmoe.2022.01.017. Epub 2022 Mar 26.
Pulmonology. 2023.
PMID: 35346640
Free article.
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Molecular characterization of PI * S hangzhou , a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin.
Hernández-Pérez JM, González Carracedo MA, García AC, Pérez JAP.
Hernández-Pérez JM, et al. Among authors: perez jap.
Front Pediatr. 2022 Sep 14;10:985892. doi: 10.3389/fped.2022.985892. eCollection 2022.
Front Pediatr. 2022.
PMID: 36186645
Free PMC article.
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A molecular toolbox for fast and convenient diagnosis of emerging and reemerging bacterial pathogens causing fever of intermediate duration.
Vega-García E, Palacios G, Pérez JA, Vélez-Tobarias M, Torres-Vega AM, Ascaso-Terrén C, Carmelo E.
Vega-García E, et al.
Eur J Clin Microbiol Infect Dis. 2024 Apr;43(4):649-657. doi: 10.1007/s10096-024-04760-8. Epub 2024 Jan 25.
Eur J Clin Microbiol Infect Dis. 2024.
PMID: 38270806
Free PMC article.
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