Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40–70% of the families remain without a mol...

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Detalles Bibliográficos
Autores principales: Morais, Sara, Raymond, Laure, Mairey, Mathilde, Coutinho, Paula, Brandão, Eva, Ribeiro, Paula, Loureiro, José Leal, Sequeiros, Jorge, Brice, Alexis, Alonso, Isabel, Stevanin, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643959/
https://www.ncbi.nlm.nih.gov/pubmed/28832565
http://dx.doi.org/10.1038/ejhg.2017.124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643959/
https://www.ncbi.nlm.nih.gov/pubmed/28832565
http://dx.doi.org/10.1038/ejhg.2017.124

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