Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency

We report the genetic variants associated with alpha‐1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M‐like heterozygous variant of the SERPINA1 gene called PI*MMMalton, and de...

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Bibliographic Details
Main Authors: Marina Aiello, Alberto Fantin, Chiara Longo, Ilaria Ferrarotti, Giuseppina Bertorelli, Alfredo Chetta
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Respirology Case Reports
Subjects:
Online Access:https://doi.org/10.1002/rcr2.528