Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

European Journal of Medical Genetics - Tập 49 Số 1 - Trang 9-18 - 2006
Christophe Philippe1, Laurent Villard2, Nicolás de Roux3, Martine Raynaud4, Jean Paul Bonnefond5, Laurent Pasquier6, Gaëtan Lesca7, Julien Mancini2, Philippe Jonveaux1, José M. Serratosa2, Jamel Chelly8, Thierry Bienvenu8
1Laboratoire de Génétique, Hôpitaux de Brabois, 54511 Vandoeuvre Les Nancy, France.
2Inserm U491, Faculté de la Timone and CHU Marseille, 13358 Marseille cedex, France
3Laboratoire d’Hormonologie et de Biologie Moléculaire, CHU de Bicêtre, 94275 Le Kremlin-Bicêtre, France
4Service de Génétique, CHU de Tours, France
5Laboratoire de Biochimie et Génétique Médicale, CHU de Necker-Enfants-Malades, Paris, France
6Unité de Génétique Clinique, CHU de Rennes, France
7Laboratoire de Génétique, Hôpital Edouard Herriot, Lyon, France
8Institut Cochin, Inserm U567, CNRS UMR8103, Université Paris 5, Paris, France

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