Publications by authors named "C Duponchel"

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Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
A Aminoff, E Gunnar, M Barbaro, M N Mannila, C Duponchel

Clin Genet· August 2012

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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Jean Christophe Théry, Sophie Krieger, Pascaline Gaildrat, Françoise Révillion, Marie-Pierre Buisine, Christiane Duponchel

Eur J Hum Genet· October 2011

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Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.
Nicole Monnier, Denise Ponard, Christiane Duponchel, Françoise Csopaki, Laurence Bouillet

Mol Immunol· July 2006

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Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Christiane Duponchel, Kamel Djenouhat, Véronique Frémeaux-Bacchi, Nicole Monnier, Christian Drouet

Hum Mutat· March 2006

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Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Olga Roche, Alvaro Blanch, Christiane Duponchel, Gumersindo Fontán, Mario Tosi

Hum Mutat· August 2005

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