Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard, M-P; Ronce, N; Blesson, S; Bieth, E; Burglen, L; Mignot, C; Mortemousque, I; Marmin, N; Dessay, B; Danesino, C; Feillet, F; Castelnau, P; Toutain, A; Moraine, C; Raynaud, M

Moizard, M-P; Ronce, N; Blesson, S; Bieth, E; Burglen, L; Mignot, C; Mortemousque, I; Marmin, N; Dessay, B; Danesino, C; Feillet, F; Castelnau, P; Toutain, A; Moraine, C; Raynaud, M.

Affiliation

Moizard MP; CHRU de Tours, Service de Génétique, Tours, F-37044, France INSERM U930, Tours, F-37044, France CHU Hôpital Purpan, Service de Génétique médicale, Toulouse, F-31059, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Génétique et Embryologie médicales, Paris, F-75571, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Neuropédiatrie, Paris, F-75012, France Genetica Medica, Università di Pavia, Fondazione IRCCS S. Matteo, Pavia, I-27100, Italie Centre de Référence des

Clin Genet ; 79(3): 243-53, 2011 Mar.

Article in En | MEDLINE | ID: mdl-21208200

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Deletion / Point Mutation / Adenosine Triphosphatases / Gene Duplication / Cutis Laxa / Cation Transport Proteins / Ehlers-Danlos Syndrome / Menkes Kinky Hair Syndrome Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2011 Document type: Article

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