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

Pietro Chiurazzi, C Redin, S. Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, Mc Vincent, D Lacombe, I Ouertani, F Petit, M Till, A Verloes, B Jost, Hb Chaabouni, H Dollfus, Jl Mandel, J. Muller