Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described. The pathophysiology of the chronic obstructive pulmonary disease (COPD) present in these patients was cha...

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Bibliographic Details
Main Authors: Philipp Höger, Martina Veith, Timm Greulich, Eldridge Limen, Judith Brock, Kai Schlamp, Katharina Buschulte, Maria A. Presotto, Julia Carmen Schäfer, Felix Herth, Franziska C. Trudzinski
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Chronic obstructive pulmonary disease
Emphysema
SERPINA1
Alpha-1 antitrypsin deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007123000333

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http://www.sciencedirect.com/science/article/pii/S2213007123000333

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