Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

OBJECTIVE: To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a family with 5 patients. METHODS: Whole-exome sequencing was performed to identify the shared genetic variants in 3 affected members in a PLS family with 5 affected individuals. Sanger sequencing was used f...

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Detalles Bibliográficos
Autores principales: Yang, Yi, Zhang, Lei, Lynch, David R., Lukas, Thomas, Ahmeti, Kreshnik, Sleiman, Patrick M.A., Ryan, Eanna, Schadt, Kimberly A., Newman, Jordan H., Deng, Han-Xiang, Siddique, Nailah, Siddique, Teepu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830188/
https://www.ncbi.nlm.nih.gov/pubmed/27123479
http://dx.doi.org/10.1212/NXG.0000000000000060

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