Article
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Respiratory medicine - 1 Jul 2016
Silva Deolinda, Oliveira Maria João, Guimarães Miguel, Lima Ricardo, Gomes Sílvia, Seixas Susana
Abstract excerpt
BACKGROUND: 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 affected individuals 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...
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