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A dysfunctional Cl inhibitor protein with a new reactive center mutation (Arg‐444→Leu)
Author(s) -
Frangi Donatella,
Aulak Kulwant S.,
Cicardi Marco,
Harrison Richard A.,
Davis Alvin E.
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)80204-t
Subject(s) - dysfunctional family , mutation , microbiology and biotechnology , pseudomonas aeruginosa , sequence analysis , peptide sequence , elastase , chemistry , biology , dna , gene , biochemistry , genetics , medicine , enzyme , bacteria , clinical psychology
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).