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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Udgivet i:Neurol Genet
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5863690/
https://ncbi.nlm.nih.gov/pubmed/29577077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000223
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