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Case Report

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

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Pages 891-897 | Published online: 07 May 2015

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Hanan A Tanash, Magnus Ekström, Philippe Wagner & Eeva Piitulainen. (2016) Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden. International Journal of Chronic Obstructive Pulmonary Disease 11, pages 1663-1669.
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Articles from other publishers (14)

José Luis Lopez-Campos, Lourdes Osaba, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali, Hakan Günen, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2022) Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis. Respiratory Research 23:1.
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Eric Manderstedt, Christer Halldén, Christina Lind‐Halldén, Johan Elf, Peter J. Svensson, Gunnar Engström, Olle Melander, Aris Baras, Luca A. Lotta, Bengt Zöller, Goncalo Abecasis, Michael Cantor, Giovanni Coppola, Aris Economides, John D. Overton, Jeffrey G. Reid, Alan Shuldiner, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Kia Manoochehri, John D. Overton, Maria Sotiropoulos Padilla, Manasi Pradhan, Thomas D. Schleicher, Ricardo H. Ulloa, Louis Widom, Sarah E. Wolf, Xiaodong Bai, Suganthi Balasubramanian, Andrew Blumenfeld, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mrunali Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Jeffrey C. Staples, Marcus B. Jones, Jason Mighty & Lyndon J. Mitnaul. (2022) Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study. Journal of Thrombosis and Haemostasis 20:6, pages 1421-1427.
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Julie Riis, Børge G. Nordestgaard & Shoaib Afzal. (2022) α1‐Antitrypsin Z allele and risk of venous thromboembolism in the general population. Journal of Thrombosis and Haemostasis 20:1, pages 115-125.
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John Charles Rotondo, Giorgio Aquila, Lucia Oton-Gonzalez, Rita Selvatici, Paola Rizzo, Monica De Mattei, Rita Pavasini, Mauro Tognon, Gianluca Calogero Campo & Fernanda Martini. (2021) Methylation of SERPINA1 gene promoter may predict chronic obstructive pulmonary disease in patients affected by acute coronary syndrome. Clinical Epigenetics 13:1.
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Anan Abu Rmilah, Robert Fencl, Kymberly Watt, Michael Krowka, Russell Wiesner, David Murray, Scott Nyberg & Michael Leise. (2020) Association of α 1 Antitrypsin Phenotype and Development of Advanced Liver Disease and Pulmonary Complications Before and After Liver Transplantation. Transplantation 105:7, pages 1576-1584.
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Nawfal Basil, Magnus Ekström, Eeva Piitulainen, Anne Lindberg, Eva Rönmark, Lars Jehpsson & Hanan Tanash. (2021) Severe alpha‐1‐antitrypsin deficiency increases the risk of venous thromboembolism. Journal of Thrombosis and Haemostasis 19:6, pages 1519-1525.
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Toufic Tannous, Claudia Rosso & Matthew Keating. (2021) Heterozygous Alpha-1 Antitrypsin Deficiency Causing Pulmonary Emboli and Pulmonary Bullae. Cureus.
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Jose Luis Lopez-Campos, Francisco Casas-Maldonado, Maria Torres-Duran, Agustin Medina-Gonzálvez, Maria Luisa Rodriguez-Fidalgo, Ines Carrascosa, Myriam Calle, Lourdes Osaba, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2021) Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency. Archivos de Bronconeumología 57:1, pages 42-50.
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Jose Luis Lopez-Campos, Francisco Casas-Maldonado, Maria Torres-Duran, Agustin Medina-Gonzálvez, Maria Luisa Rodriguez-Fidalgo, Ines Carrascosa, Myriam Calle, Lourdes Osaba, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2021) Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency. Archivos de Bronconeumología (English Edition) 57:1, pages 42-50.
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Sanja Blaskovic, Yves Donati, Filippo Zanetti, Isabelle Ruchonnet-Métrailler, Sylvain Lemeille, Tiziana P. Cremona, Johannes C. Schittny & Constance Barazzone-Argiroffo. (2020) Gestation and lactation exposure to nicotine induces transient postnatal changes in lung alveolar development. American Journal of Physiology-Lung Cellular and Molecular Physiology 318:4, pages L606-L618.
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G. E. Carpagnano, R. Santacroce, G. A. Palmiotti, A. Leccese, E. Giuffreda, M. Margaglione, M. P. Foschino Barbaro, S. Aliberti & D. Lacedonia. (2017) A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis. Lung 195:5, pages 679-682.
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Ignacio Blanco. 2017. Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Blanco's Overview of Alpha-1 Antitrypsin Deficiency 67 87 .
Arif Bashir, Naveed Nazir Shah, Younis Mohammad Hazari, Mudasir Habib, Samirul Bashir, Nazia Hilal, Mariam Banday, Syed Asrafuzzaman & Khalid Majid Fazili. (2016) Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease. Respiratory Medicine 117, pages 139-149.
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Nupur Aggarwal, Beatriz Martinez Delgado, Sandeep Salipalli, Nerea Matamala, Jessica Rademacher, Nicolaus Schwerk, Tobias Welte, Sabina Janciauskiene & Felix C. Ringshausen. (2016) Why do some adults with PiMZ α 1 -antitrypsin develop bronchiectasis? . ERJ Open Research 2:2, pages 00021-2016.
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