The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean‐Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Éric Bieth, Marie Pierre 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, Jéléna Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quēlin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier‐Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou
Формат: Artigo
Хэл сонгох:англи
Хэвлэсэн: 2015
Онлайн хандалт:https://doi.org/10.1038/ejhg.2015.250
https://www.nature.com/articles/ejhg2015250.pdf
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Интернэт

https://doi.org/10.1038/ejhg.2015.250
https://www.nature.com/articles/ejhg2015250.pdf

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