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A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
Clinica Medica V, Universita di Milano, Ospedale S. Paolo, Italy.
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).
PMID: 1451784 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
Ocejo-Vinyals JG, Leyva-Cobián F, Fernández-Luna JL.
Mol Med. 1995 Sep; 1(6):700-5.
[Mol Med. 1995]
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Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ.
J Clin Invest. 1995 Mar; 95(3):1299-305.
[J Clin Invest. 1995]
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Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M.
J Clin Invest. 1995 Jan; 95(1):350-9.
[J Clin Invest. 1995]