Article
A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020
Goldstein Orly, Kedmi Merav, Gana-Weisz Mali, Nefussy Beatrice, Vainer Batel, Fainmesser Yaara, Drory Vivian E, Orr-Urtreger Avi
Abstract excerpt
Objective: To identify the genetic background of ALS segregating in a large Bedouin family in Israel. Methods: Exome sequencing was carried out on three siblings in a family segregating ALS, two affected and one without neurological symptoms. Filtering for causative variants and for modifiers was carried out. Eight variants were confirmed by Sanger sequencing and genotyped on nine available members of the family...
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