Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

OBJECTIVE: To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing. METHODS: Genetic linkage analysis was performed in this family using Illumina single nucleotide polymorph...

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Autores principales: González-Pérez, Paloma, Cirulli, Elizabeth T., Drory, Vivian E., Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L., Sadeh, Menachem, Fox, Andrew, Festoff, Barry W., Sapp, Peter C., McKenna-Yasek, Diane, Goldstein, David B., Brown, Robert H., Blumen, Sergiu C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570818/
https://ncbi.nlm.nih.gov/pubmed/23152587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318275963b
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