Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

@article{Roche2005HereditaryAT,
  title={Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.},
  author={Olivier Roche and Alvaro Blanch and Christiane Duponchel and Gumersindo Font{\'a}n and Mario Tosi and Margarita L{\'o}pez-Trascasa},
  journal={Human mutation},
  year={2005},
  volume={26 2},
  pages={
          135-44
        }
}
Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southern blotting, and quantitative multiplex PCR of short fluorescent fragments (QMPSF), and we characterized several defects at the mRNA level. We found large rearrangements in 13 families, and point mutations or microdeletions/insertions in 74… CONTINUE READING
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