A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation

A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation

Introduction: Alpha-1 antitrypsin (AAT) deficiency, characterized by reduced synthesis of a serine protease inhibitor in liver cells, has been recognized to contribute to the development of emphysema and liver disease. Additional clinical manifestations encompassing respiratory disorders and dermato...

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Bibliographic Details
Main Authors: Seda Tural Önür, Kardelen Karaca Şenkal
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Alpha-1 antitrypsin deficiency (AATD)
Emphysema
Q0 amersfoort
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007124001072

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http://www.sciencedirect.com/science/article/pii/S2213007124001072

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