Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio‐oedema

Hereditary angio‐oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII‐HAE). We report two Brazilian FXII‐HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The hom...

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