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The Expanding Spectrum of COL2A1 Gene Variants IN 136 Patients with a Skeletal Dysplasia Phenotype

Mouna Barat-Houari,Bruno Dumont,Aurélie Fabre, Frédéric TM Them,Yves Alembik,Jean-Luc Alessandri,Jeanne Amiel,Séverine Audebert, Clarisse Baumann-Morel,Patricia Blanchet,Eric Bieth,Marie Brechard,Tiffany Busa,Patrick Calvas,Yline Capri,François Cartault,Nicolas Chassaing, Vidrica Ciorca,Christine Coubes,Albert David,Anne-Lise Delezoide,Delphine Dupin-Deguine,Salima El Chehadeh,Laurence Faivre,Fabienne Giuliano,Alice Goldenberg,Bertrand Isidor,Marie-Line Jacquemont,Sophie Julia,Josseline Kaplan,Didier Lacombe,Marine Lebrun,Sandrine Marlin,Dominique Martin-Coignard,Jelena Martinovic,Alice Masurel,Judith Melki,Monique Mozelle-Nivoix,Karine Nguyen,Sylvie Odent,Nicole Philip,Lucile Pinson,Ghislaine Plessis,Chloé Quélin, Elise Shaeffer,Sabine Sigaudy,Christel Thauvin,Marianne Till,Renaud Touraine,Jacqueline Vigneron,Geneviève Baujat,Valérie Cormier-Daire,Martine Le Merrer,David Geneviève,Isabelle Touitou

European Journal of Human Genetics（2015）

引用 41|浏览94
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关键词
Disease genetics,Genetic counselling,Genetic testing,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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