Clinical manifestations of a new alpha-1 antitrypsin genetic variant: Q0parma.

ABSTRACT: Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy.

SUBMITTER: Aiello M 

PROVIDER: S-EPMC9008433 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature