Motor protein mutations cause a new form of hereditary spastic paraplegia

OBJECTIVE: To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS: We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression...

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Detalhes bibliográficos
Main Authors: Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4105256/
https://ncbi.nlm.nih.gov/pubmed/24808017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000479
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