Article
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Human mutation - 1 Aug 2005
Roche Olga, Blanch Alvaro, Duponchel Christiane, Fontán Gumersindo, Tosi Mario, López-Trascasa Margarita
Abstract excerpt
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...
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