Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry

Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry

Abstract Introduction The PI*Mmalton variant is a rare form of alpha-1-antitrypsin (AAT) deficiency, caused by a mutation in the SERPINA1 gene and associated with reduced AAT levels. Its clinical significance remains uncertain due to the limited number of reported cases. Methods This study character...

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Main Authors: Beatriz D. Ferraz, Maria Sucena, Margarida Fonseca Cardoso, Alice M. Turner, José María Hernández-Pérez, María Torres-Duran, Hanan Tanash, Carlota Rodríguez-García, Jens-Ulrik Jensen, Angelo Corsico, José Luis López-Campos, Kenneth Chapman, Christian F. Clarenbach, Joana Gomes, Marc Miravitlles, Beatriz Lara
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Pulmonary Medicine
Subjects:
Alpha-1 antitrypsin
PI*Mmalton
Lung disease
Registries
Online Access:https://doi.org/10.1186/s12890-025-03651-8
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https://doi.org/10.1186/s12890-025-03651-8

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