ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

OBJECTIVE: To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). METHODS: Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP....

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Detalles Bibliográficos
Autores principales: Bouwkamp, Christian G., Afawi, Zaid, Fattal-Valevski, Aviva, Krabbendam, Inge E., Rivetti, Stefano, Masalha, Rafik, Quadri, Marialuisa, Breedveld, Guido J., Mandel, Hanna, Tailakh, Muhammad Abu, Beverloo, H. Berna, Stevanin, Giovanni, Brice, Alexis, van IJcken, Wilfred F.J., Vernooij, Meike W., Dolga, Amalia M., de Vrij, Femke M.S., Bonifati, Vincenzo, Kushner, Steven A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863690/
https://www.ncbi.nlm.nih.gov/pubmed/29577077
http://dx.doi.org/10.1212/NXG.0000000000000223

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