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...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2020-04-01
|
Series: | Respirology Case Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/rcr2.528 |