Rare alpha-1-antitrypsin variants: are they really so rare?
Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, whi...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2012-04-01
|
| Series: | Therapeutic Advances in Respiratory Disease |
| Online Access: | https://doi.org/10.1177/1753465811434320 |