Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency

Article Properties

• Language

  English
• DOI (url)

  10.1165/rcmb.2022-0470oc
• Publication Date

  2023/09/01
• Journal

  American Journal of Respiratory Cell and Molecular Biology
• Indian UGC (journal)
• Refrences

  47
• Stefania Ottaviani Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; ORCID (unauthenticated)
• Giulia Bartoli Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; ORCID (unauthenticated)
• Tomás P. Carroll α-1 Foundation Ireland, Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland; ORCID (unauthenticated)
• Fabrizio Gangemi Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; ORCID (unauthenticated)
• Alice M. Balderacchi Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; ORCID (unauthenticated)
• Valentina Barzon Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy; ORCID (unauthenticated)
• Alessandra Corino Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;
• Davide Piloni Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; ORCID (unauthenticated)
• Noel G. McElvaney α-1 Foundation Ireland, Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland; ORCID (unauthenticated)
• Angelo G. Corsico Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy;European Reference Network on Rare Respiratory Diseases (ERN-LUNG); and ORCID (unauthenticated)
• James A. Irving University College London Respiratory, Rayne Institute and the Institute of Structural and Molecular Biology, University College London, London, United Kingdom ORCID (unauthenticated)
• Annamaria Fra Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; ORCID (unauthenticated)
• Ilaria Ferrarotti Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Unità Operativa Complessa Pneumologia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy;European Reference Network on Rare Respiratory Diseases (ERN-LUNG); and ORCID (unauthenticated)