Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological...

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Detalles Bibliográficos
Autores principales: Grosse, Gerrit M., Bauer, Christine, Kopp, Bruno, Schrader, Christoph, Osmanovic, Alma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050135/
https://www.ncbi.nlm.nih.gov/pubmed/32122354
http://dx.doi.org/10.1186/s12881-020-0984-7

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