Alpha1-antitrypsin deficiency in Greece: Focus on rare variants

Purpose A1Antitrypsin deficiency (AATD) pathogenic mutations are expanding beyond the PI*Z and PI*S to a multitude of rare variants.Aim to investigate genotype and clinical profile of Greeks with AATD.Methods Symptomatic adult-patients with early-emphysema defined by fixed airway obstruction and com...

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Bibliographic Details
Published in:Pulmonology
Main Authors: S.A. Papiris, M. Veith, A.I. Papaioannou, V. Apollonatou, I. Ferrarotti, S. Ottaviani, A. Tzouvelekis, V. Tzilas, N. Rovina, G. Stratakos, I. Gerogianni, Z. Daniil, L. Kolilekas, K. Dimakou, G. Pitsidianakis, N. Tzanakis, S. Tryfon, F. Fragopoulos, E.M. Antonogiannaki, A. Lazaratou, E. Fouka, D. Papakosta, P. Emmanouil, N. Anagnostopoulos, T. Karampitsakos, K. Vlami, M. Kallieri, P. Lyberopoulos, S. Loukides, D. Bouros, A. Bush, M. Balduyck, C. Lombard, V. Cottin, J.F. Mornex, C.F. Vogelmeier, T. Greulich, E.D. Manali
Format: Article
Language:English
Published: Taylor & Francis Group 2024-01-01
Subjects:
A1antitrypsin
Rare variants
Emphysema
Genetic diversity
Gene sequencing
Greeks
Online Access:https://www.tandfonline.com/doi/10.1016/j.pulmoe.2022.12.007

Internet

https://www.tandfonline.com/doi/10.1016/j.pulmoe.2022.12.007

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