Next-generation sequencing: a decisive diagnostic aid for atypical Wilson’s disease

Deutsche Zeitschrift für Nervenheilkunde - Tập 269 - Trang 6664-6666 - 2022
Amory Jardel1, Céline Bonnet2,3, Solène Frismand-Kryloff1, Jean Marie Ravel2,3, Emmanuelle Schmitt4, Mickael Alexandre Obadia5, Sébastien Delassaux6, Myriam Bronner2, Aurelia Poujois5,7, Mathilde Renaud1,3,8
1Service de Neurologie, CHRU Nancy, Nancy, France
2Laboratoire de Génétique Médicale, CHRU Nancy, Nancy, France
3Université de Lorraine, INSERM U1256, NGERE, Nancy, France
4Service de Neuroradiologie, CHRU Nancy, Nancy, France
5Service de Neurologie, Hôpital Fondation Adolphe de Rothschild, Paris, France
6Centre Hospitalier Emile Durkheim d’Epinal, Epinal, France
7Centre de Référence de la Maladie de Wilson et Autres Maladies Rares Liées au Cuivre, Service de Neurologie, Hôpital Fondation Adolphe de Rothschild, Paris, France
8Service de Génétique Médicale, CHRU de Nancy, Nancy, France

Tài liệu tham khảo

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