A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.

doi:10.1046/j.1523-1747.1998.00170.x

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Article

A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.

The Journal of investigative dermatology - 1 May 1998

Kawachi Y, Hibi T, Yamazaki S, Otsuka F

Abstract excerpt

We studied the molecular genetic basis of a C1 inhibitor deficiency in a patient with type I hereditary angioneurotic edema using both the polymerase chain reaction and nucleotide sequencing. A single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of t...

Topics

Adult
Alleles
Angioedema
Base Sequence
Female
Humans
Point Mutation
RNA Splicing
RNA, Messenger
Serine Proteinase Inhibitors

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