Article
Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).
European journal of human genetics : EJHG - 1 Apr 1999
Poller W, Merklein F, Schneider-Rasp S, Haack A, Fechner H, Wang H, Anagnostopoulos I, Weidinger S
Abstract excerpt
Deficiency of the serine proteinase inhibitor (serpin) alpha 1-antitrypsin (alpha 1AT) is the most common autosomal recessive genetic disorder in Northern Europe. alpha 1AT is the physiological regulator of the proteolytic enzyme neutrophil elastase and severe deficiency states are associated with an increased risk of developing chronic obstructive pulmonary disease (COPD) as a consequence of chronic proteolytic...
Topics
- Adult
- Alleles
- Animals
- Child
- Female
- Gene Expression
- Humans
- Isoleucine
- Leucine
- Male
- Mice
- Pedigree
- Proline
- Serine
- Serine Proteinase Inhibitors