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:
- Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.JCI Insight, 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
- A new simplified procedure for C1 inhibitor purification: A novel use for jacalin-agaroseJournal of Immunological Methods, 1989
- The CpG dinucleotide and human genetic diseaseHuman Genetics, 1988
- Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema.JCI Insight, 1987
- [21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reactionMethods in Enzymology, 1987
- Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNABiochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1982
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979
- Molecular basis of base substitution hotspots in Escherichia coliNature, 1978
- Synthesis of the second component of complement by long-term primary cultures of human monocytes.The Journal of Experimental Medicine, 1976