Article
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.
Lung - 1 Oct 2017
Carpagnano G E, Santacroce R, Palmiotti G A, Leccese A, Giuffreda E, Margaglione M, Foschino Barbaro M P, Aliberti S, Lacedonia D
Abstract excerpt
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a...
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