The evolving genetic risk for sporadic ALS

OBJECTIVE:To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)–associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. METHODS:Whole exome sequencing and repeat expansion PCR of C9orf72...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2017-07, Vol.89 (3), p.226-233
Hauptverfasser:	Gibson, Summer B, Downie, Jonathan M, Tsetsou, Spyridoula, Feusier, Julie E, Figueroa, Karla P, Bromberg, Mark B, Jorde, Lynn B, Pulst, Stefan M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amyotrophic Lateral Sclerosis - genetics Ataxin-2 - genetics C9orf72 Protein Cohort Studies DNA Repeat Expansion Exome Female Gene Frequency Genetic Predisposition to Disease Humans Male Middle Aged Models, Genetic Odds Ratio Principal Component Analysis Proteins - genetics Sequence Analysis, DNA Whites - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!