Rare mutations

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger

Journal of Medical Genetics Oct 2013, 50 (10) 704-714; DOI: 10.1136/jmedgenet-2013-101604

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Rare mutations