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

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          Abstract

          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.

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          Author and article information

          Journal
          Hum. Genet.
          Human genetics
          Springer Science and Business Media LLC
          0340-6717
          0340-6717
          Dec 1991
          : 88
          : 2
          Affiliations
          [1 ] University Department of Pathology, Western Infirmary, Glasgow, UK.
          Article
          10.1007/bf00206079
          1684567

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