A dysfunctional Cl inhibitor protein with a new reactive center mutation (Arg‐444→Leu)
Open Access
- 13 April 1992
- journal article
- Published by Wiley in FEBS Letters
- Vol. 301 (1), 34-36
- https://doi.org/10.1016/0014-5793(92)80204-t
Abstract
A Pl mutation (Arg‐444→Leu) was identified in a dysfunctional Cl 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).This publication has 18 references indexed in Scilit:
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