A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b

Neuromuscular Disorders - Tập 26 - Trang 516-520 - 2016
L. Corrado1,2, S. Magri3, A. Bagarotti1, M. Carecchio4, G. Piscosquito5, D. Pareyson5, C. Varrasi4, D. Vecchio4, A. Zonta1, R. Cantello4, F. Taroni3, S. D'Alfonso1,2
1Human Genetics Laboratory, Department of Health Sciences, Amedeo Avogadro University, Via Solaroli 17, 28100 Novara, Italy
2Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Amedeo Avogadro University, Novara, Italy
3Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy
4Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy
5Unit of Clinic of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy

Tài liệu tham khảo

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