✦ LIBER ✦

An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

✍ Scribed by Z. Siddique; A. R. McPhaden; D. F. Lappin; K. Whaley

Publisher: Springer
Year: 1991
Tongue: English
Weight: 432 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00206079

No coin nor oath required. For personal study only.

✦ Synopsis

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. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred.

📜 SIMILAR VOLUMES

A point mutation in exon 7 of the C1-inh

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

✍ H. Ono; Hiroshi Kawaguchi; Norihisa Ishii; Hiroshi Nakajima 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 39 KB

Acceptor splice site mutation in the inv

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

✍ José Manuel Soria; Jordi Fontcuberta; Miguel Chillón; Montserrat Borrell; Xavier 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 344 KB

Five novel mutations in the C1 inhibitor

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

✍ Tomáš Freiberger; Lenka Kolárová; Pavel Mejstrík; Martina Vyskocilová; Pavel Kuk 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB

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

A de novo G+1 → a mutation at the α2(I)

A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

✍ Jane D. Filie; Bonnie M. Orrison; Qin Wang; Mary Beth Lewis; Joan C. Marini 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 839 KB

Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained