The polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (CAG-->TAG at nucleotide 16842 in the C1-inhibitor gene in the affected members of a single family with type I C1-inhibitor deficiency. This mutation creates the TAG translation termination codon, thereby truncating the C1-inhibitor C-terminus by 17 amino acids. The effects of the mutation are discussed.
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This record was last updated on 07/02/2016 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/8330878