Clinical manifestations in patients with PI*MM(Malton) 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*MM(Malton), and...

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Detalles Bibliográficos
Autores principales: Aiello, Marina, Fantin, Alberto, Longo, Chiara, Ferrarotti, Ilaria, Bertorelli, Giuseppina, Chetta, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029433/
https://www.ncbi.nlm.nih.gov/pubmed/32076552
http://dx.doi.org/10.1002/rcr2.528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029433/
https://www.ncbi.nlm.nih.gov/pubmed/32076552
http://dx.doi.org/10.1002/rcr2.528

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