Publication
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller, Jean Muller, C. Stoetzel, C. Stoetzel, M. C. Vincent, M. C. Vincent, C. C. Leitch, C. C. Leitch, V. Laurier, V. Laurier, J. M. Danse, J. M. Danse, S. Hellé, S. Hellé, V. Marion, V. Marion, V. Bennouna-Greene, V. Bennouna-Greene, S. Vicaire, S. Vicaire, A. Megarbane, A. Megarbane, J. Kaplan, J. Kaplan, V. Drouin-Garraud, V. Drouin-Garraud, M. Hamdani, M. Hamdani, S. Sigaudy, S. Sigaudy, C. Francannet, C. Francannet, J. Roume, J. Roume, P. Bitoun, P. Bitoun, A. Goldenberg, A. Goldenberg, N. Philip, N. Philip, S. Odent, S. Odent, J. Green, J. Green, M. Cossée, M. Cossée, E. E. Davis, E. E. Davis, N. Katsanis, N. Katsanis, D. Bonneau, D. Bonneau, A. Verloes, A. Verloes, O. Poch, O. Poch, J. L. Mandel, J. L. Mandel, H. Dollfus, H. Dollfus
Human Genetics, February 2010, Springer Science + Business Media
DOI: 10.1007/s00439-010-0804-9