Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency

Ottaviani, S; Bartoli, G; Carroll, TP; Gangemi, F; Balderacchi, AM; Barzon, V; Corino, A; Piloni, D; McElvaney, NG; Corsico, AG; Irving, JA; Fra, A; Ferrarotti, I

Ferrarotti, I (通讯作者)，Fdn Ist Ricovero Cura Carattere Sci, Unit Operativa Complessa Pneumol, Ctr Diag Inherited Alpha Antitrypsin Deficiency 1, Taramelli 19, I-27100 Pavia, Italy.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2023; 69 (3): 355

Abstract

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT).......

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