Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Fam
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema
β Scribed by H. Ono; Hiroshi Kawaguchi; Norihisa Ishii; Hiroshi Nakajima
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 39 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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Communicated by Mark H. Paalman Hereditary angioedema (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 inh, or C1NH). Most patients with HAE have an ab
Hereditary angioedema (HAE) is due to a variety of defects in the C1 inhibitor gene (C1NH gene), including approximately 20% of partial deletions/duplications whose boundaries are usually within Alu repeats. To ensure complete molecular characterization of C1 inhibitor deficiencies a fluorescent mul