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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). METHODS: Mutations were identified by bidirectional Sanger sequence analysis of the 5...

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Detalles Bibliográficos
Autores principales:	Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Jaunmuktane, Zane, Carr, Aisling, Saveri, Paola, Piscosquito, Giuseppe, Pareyson, Davide, Laura, Matilde, Blake, Julian C., Poh, Roy, Polke, James, Houlden, Henry, Reilly, Mary M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386440/ https://www.ncbi.nlm.nih.gov/pubmed/28283593 http://dx.doi.org/10.1212/WNL.0000000000003819

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