Identification of a novel alpha1-antitrypsin variant

de Seynes, C; Ged, C; de Verneuil, H; Chollet, N; Balduyck, M; Raherison, C

de Seynes, C (reprint author), Bordeaux Univ, Dept Resp Dis, F-33000 Bordeaux, France.

RESPIRATORY MEDICINE CASE REPORTS, 2017; 20 ( ): 64

Abstract

Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity i......

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