Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli

Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli

Alpha-1 antitrypsin deficiency is a rare and often underdiagnosed hereditary disorder, which mainly affects the Caucasian population. We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum alpha-1-antitrypsin (AAT) level, in the absence...

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Bibliographic Details
Main Authors: Marco Mosella, Mariasofia Accardo, Antonio Molino, Mauro Maniscalco, Alessandro Sanduzzi Zamparelli
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-01-01
Series:Annals of Thoracic Medicine
Subjects:
Alpha-1 antitrypsin deficiency
bronchiectasis
emphysema
Online Access:http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2018;volume=13;issue=1;spage=59;epage=61;aulast=Mosella

Internet

http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2018;volume=13;issue=1;spage=59;epage=61;aulast=Mosella

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