Ontology highlight
ABSTRACT:
SUBMITTER: de Seynes C
PROVIDER: S-EPMC5198725 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
de Seynes Camille C Ged C C de Verneuil H H Chollet N N Balduyck M M Raherison C C
Respiratory medicine case reports 20161118
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the clinical manifestations of A1ATD are associated with PIZZ (p.Glu366Lys; p.Glu366Lys (p.Glu342Lys; p.Glu342Lys)) or PISZ (p.Glu288Val; p.Glu366Lys (p.Glu264Val; p.Glu342Lys)) genotype, less frequently, ...[more]