NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

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Published in J Hum Genet on January 29, 2015

Authors

Apolline Imbard1, Eric Pasmant2, Audrey Sabbagh3, Armelle Luscan2, Magali Soares4, Philippe Goussard4, Hélène Blanché5, Ingrid Laurendeau6, Salah Ferkal7, Michel Vidaud2, Stéphane Pinson8, Christine Bellanne-Chantelot9, Dominique Vidaud2, Pierre Wolkenstein10, members of the NF France Network, Béatrice Parfait2

Author Affiliations

1: Service de Biochimie-Hormonologie, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
2: 1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
3: IRD, UMR216, Mère et enfant face aux infections tropicales, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.
4: Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
5: Fondation Jean-Dausset-Centre d'Etude du Polymorphisme Humain (CEPH), Institut de Génétique Moléculaire, Paris, France.
6: EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.
7: INSERM, Centre d'Investigation Clinique 006, AP-HP, Groupe hospitalier Henri Mondor-Albert Chenevier, Créteil, France.
8: Service de Génétique Moléculaire, Hôpital Edouard-Herriot, Lyon, France.
9: Département de Génétique, Hôpital de la Pitié-Salpêtrière, Université Pierre et Marie Curie, AP-HP, Paris, France.
10: Département de Dermatologie, Centre de référence des neurofibromatoses, Hôpital Henri-Mondor, AP-HP and EA 4393 LIC, Université Paris Est Créteil (UPEC), Créteil, France.

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