Freiberger, Tomás <br/><br/>
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.  [electronic resource] 

 -  Human mutation  Apr 2002 
 - 461 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9029  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Angioedema--classification<br/>Codon, Nonsense--genetics<br/>Complement C1 Inactivator Proteins--genetics<br/>Complement C1 Inhibitor Protein<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Frameshift Mutation--genetics<br/>Humans<br/>Polymorphism, Genetic--genetics<br/>Sequence Deletion--genetics