Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency
Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described. The pathophysiology of the chronic obstructive pulmonary disease (COPD) present in these patients was cha...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Elsevier
2023-01-01
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| Sraith: | Respiratory Medicine Case Reports |
| Ábhair: | |
| Rochtain ar líne: | http://www.sciencedirect.com/science/article/pii/S2213007123000333 |
| Clibeanna: |
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