Clinical manifestations of a new alpha-1 antitrypsin genetic variant: Q0parma
- Aiello M.
- Frizzelli A.
- Marchi L.
- Ferrarotti I.
- Piloni D.
- Pelà G. M.
- De Simoni A.
- D'Aloisio L.
- Calzetta L.
- Chetta A.
DOIAbstract
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
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