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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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Detalles Bibliográficos
Autores principales:	Mosella, Marco, Accardo, Mariasofia, Molino, Antonio, Maniscalco, Mauro, Zamparelli, Alessandro Sanduzzi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772110/ https://www.ncbi.nlm.nih.gov/pubmed/29387258 http://dx.doi.org/10.4103/atm.ATM_234_17

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