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.

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.. - In: RESPIROLOGY CASE REPORTS. - ISSN 2051-3380. - 10:5(2022), pp. e0936-e0936. [10.1002/rcr2.936]

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

Aiello M.;Frizzelli A.;Marchi L.;Pelà G. M.;De Simoni A.;D'Aloisio L.;Calzetta L.;Chetta A.
2022-01-01

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.
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.. - In: RESPIROLOGY CASE REPORTS. - ISSN 2051-3380. - 10:5(2022), pp. e0936-e0936. [10.1002/rcr2.936]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2924008
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact