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

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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Hlavní autoři: Marina Aiello, Alberto Fantin, Chiara Longo, Ilaria Ferrarotti, Giuseppina Bertorelli, Alfredo Chetta
Médium: Článek
Jazyk:English
Vydáno: Wiley 2020-04-01
Edice:Respirology Case Reports
Témata:
Alpha‐1 antitrypsin deficiency
genotype
lung and liver function
On-line přístup:https://doi.org/10.1002/rcr2.528

Internet

https://doi.org/10.1002/rcr2.528

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