Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Abstract Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1. Many individuals affected by AATD are thought to be undiagnosed, leading to poor patient outcom...

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Bibliographic Details
Main Authors: Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Alpha 1 antitrypsin
Alpha 1 antitrypsin deficiency
SERPINA1
Rare variants
Online Access:https://doi.org/10.1186/s13023-024-03069-1

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