An RNA splice site mutation in the C1-inhibitor ge...[Hum Genet. 1991]

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1: Hum Genet. 1991 Dec;88(2):231-2.Links

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

Siddique Z, McPhaden AR, Lappin DF, Whaley K.

University Department of Pathology, Western Infirmary, Glasgow, UK.

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.

PMID: 1684567 [PubMed - indexed for MEDLINE]

Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.
Hum Hered. 1992; 42(5):298-301.

[Hum Hered. 1992]
A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.
Hum Hered. 1992; 42(4):231-4.

[Hum Hered. 1992]
Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.
Hum Hered. 1995 Mar-Apr; 45(2):98-102.

[Hum Hered. 1995]
ReviewA review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.
Clin Immunol. 2001 Feb; 98(2):157-63.

[Clin Immunol. 2001]
ReviewMolecular genetics of C1 inhibitor.
Immunobiology. 1998 Aug; 199(2):358-65.

[Immunobiology. 1998]
» See reviews... | » See all...

Cited by 1 PubMed Central article

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. Am J Hum Genet. 1996 Aug; 59(2):308-19.

[Am J Hum Genet. 1996]

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