Stedman's > antitrypsin deficiency

antitrypsin deficiency

deficiency of α₁-antitrypsin, a serum protease inhibitor, is associated with emphysema and/or liver cirrhosis. By isoelectric focusing, numerous variants have been identified, with different levels of normal activity; autosomal recessive inheritance, caused by mutation in the P1 gene on chromosomal 14q.

 

 

 

 

 

 

 

 

 

 

 

Link to Page

Print Page

Email Page