Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes.

Claire Redin, Stéphanie Le Gras, Oussema Mhamdi, Véronique Geoffroy, Corinne Stoetzel, Marie-Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Ines Ouertani, Florence Petit, Marianne Till, Alain Verloes, Bernard Jost, Habiba Bouhamed Chaabouni, Helene Dollfus, Jean-Louis Mandel, Jean Muller

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Biochemistry, Genetics and Molecular Biology