Clinical manifestations of a new alpha-1 antitrypsin genetic variant: Q0parma
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 va...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
John Wiley and Sons Inc
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |