A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema

Human Genetics

Volumn 98, Issue 4, 1996, Pages 452-453

  Ono, Hideki ^a   Kawaguchi, Hiroshi ^a   Ishii, Norihisa ^a   Nakajima, Hiroshi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

ALLELE; AMINO ACID SEQUENCE; ANGIONEUROTIC EDEMA; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY STUDY; GENE AMPLIFICATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

EID: 0029791501     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050238     Document Type: Article

References (11)

1. Carter PE, Duponchel C, Tosi M, Fothergill JE (1991) Complete nucleotide sequence of the gene for human C1-inhibitor with an unusually high density of Alu elements. Eur J Biochem 197:301-308
2. Cicardi M, Bergamaschini L, Marasini B, Boccassini G, Tucci A, Agostini A (1982) Hereditary angio-oedema: an appraisal of 104 cases. Am J Med Sci 284:2-9
3. Davis AE III (1988) C1-inhibitor and hereditary angio-neurotic oedema. Annu Rev Immunol 6:595-628
4. Donaldson VH, Bissler JJ (1992) C1 inhibitors and their genes: an update. J Lab Clin Med 119:330-333
5. Kerr MA, Yeung-Laiwah AAC (1987) C1-inhibitor deficiency and angio-oedema. In: Whaley K (ed) Complement in health and disease. MTP Press, Lancaster, pp 53-78
6. Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE III (1990) Dysfunctional C1-inhibitor Ta: deletion of Lys-251 results in acquisition of N-glycosylation site. Proc Natl Acad Sci USA 87:6786-6790
7. Saiki RK, Gyllensten VB, Erlich HA (1988) The polymerase chain reaction. In: Davies KE (ed) Genomic analysis. A practical approach. IRL Press, Oxford, pp 141-152
8. Siddique Z, McPhaden AR, Lappin DF, Whaley K (1991) An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. Hum Genet 88:231-232
9. Siddique Z, McPhaden AR, McCluskey D, Whaley K (1992) A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema. Hum Hered 42:231-234
10. Siddique Z, McPhaden AR, Fothergill JE, Whaley K (1993) A point mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. Hum Hered 43:155-158
11. Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci USA 87:1551-1555