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An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
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]
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Cited by 1 PubMed Central article