A DYSFUNCTIONAL C1 INHIBITOR PROTEIN WITH A NEW REACTIVE CENTER MUTATION (ARG-444-]LEU)

作者：FRANGI D; AULAK KS; CICARDI M; HARRISON RA; D**IS AE

来源：FEBS Letters, 1992, 301(1): 34-36.

DOI：10.1016/0014-5793(92)80204-T

• C1 INHIBITOR
• HEREDITARY ANGIONEUROTIC EDEMA
• SERPIN
• POINT MUTATION
• PLASMA PROTEINASE INHIBITOR

A P1 mutation (Arg-444 --> Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC --> CTC) (by sequence analysis of PCR-amplified DNA).

• 出版日期1992-4-13