A Review of the Reported Defects in the Human C1 Esterase Inhibitor Gene Producing Hereditary Angioedema Including Four New Mutations
- 1 February 2001
- journal article
- review article
- Published by Elsevier in Clinical Immunology
- Vol. 98 (2), 157-163
- https://doi.org/10.1006/clim.2000.4947
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedemaHuman Genetics, 1996
- Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.Journal of Clinical Investigation, 1995
- A Point Mutation in the Cl-inhibitor Gene Causes Type I Hereditary AngiooedemaHuman Heredity, 1993
- C1 inhibitor hinge region mutations produce dysfunction by different mechanismsNature Genetics, 1992
- A dysfunctional Cl inhibitor protein with a new reactive center mutation (Arg‐444→Leu)FEBS Letters, 1992
- Type II Hereditary Angio-Oedema Associated with Two Mutations in One Allele of the C1-lnhibitor Gene around the Reactive-Site Coding RegionHuman Heredity, 1992
- Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elementsEuropean Journal of Biochemistry, 1991
- Identification of a new P1 residue mutation (444Arg→Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasmaFEBS Letters, 1990
- C1 Inhibitor and Hereditary Angioneurotic EdemaAnnual Review of Immunology, 1988
- Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema.Journal of Clinical Investigation, 1987