Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.

Freiberger, Tomás

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.9029 doi


Angioedema--classification
Codon, Nonsense--genetics
Complement C1 Inactivator Proteins--genetics
Complement C1 Inhibitor Protein
DNA Mutational Analysis
Exons--genetics
Frameshift Mutation--genetics
Humans
Polymorphism, Genetic--genetics
Sequence Deletion--genetics