A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Aimée Vester; Gisselle Velez-Ruiz; Heather M. McLaughlin; NISC Comparative Sequencing Program; James R. Lupski; Kevin Talbot; Jeffery M. Vance; Stephan Züchner; Ricardo H. Roda; Kenneth H. Fischbeck; Leslie G. Biesecker; Garth Nicholson; Asim A. Beg; Anthony Antonellis

doi:10.1002/humu.22210

journal article Oct 11, 2012

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Aimée Vester Gisselle Velez-Ruiz Heather M. McLaughlin NISC Comparative Sequencing Program James R. Lupski Kevin Talbot

Jeffery M. Vance Stephan Züchner Ricardo H. Roda Kenneth H. Fischbeck Leslie G. Biesecker Garth Nicholson Asim A. Beg Anthony Antonellis

Human Mutation Vol. 34 No. 1 pp. 191-199 · Wiley

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Details

Published: Oct 11, 2012
Vol/Issue: 34(1)
Pages: 191-199
License: View

Authors

A

Aimée Vester

Department of Human Genetics; University of Michigan Medical School; Ann Arbor; Michigan

G

Gisselle Velez-Ruiz

Department of Pharmacology; University of Michigan Medical School; Ann Arbor; Michigan

H

Heather M. McLaughlin

Department of Human Genetics; University of Michigan Medical School; Ann Arbor; Michigan

N

NISC Comparative Sequencing Program

NIH Intramural Sequencing Center; National Human Genome Research Institute, National Institutes of Health; Bethesda; Maryland

Department of Clinical Neurology; University of Oxford; Oxford; United Kingdom

J

Jeffery M. Vance

Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami; Florida

S

Stephan Züchner

Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami; Florida

R

Ricardo H. Roda

Neurogenetics Branch; National Institute of Neurological Disorders and Stroke, National Institutes of Health; Bethesda; Maryland

K

Kenneth H. Fischbeck

Neurogenetics Branch; National Institute of Neurological Disorders and Stroke, National Institutes of Health; Bethesda; Maryland

L

Leslie G. Biesecker

Genetic Disease Research Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda; Maryland

Department of Pharmacology; University of Michigan Medical School; Ann Arbor; Michigan

A

Anthony Antonellis

Cite This Article

Aimée Vester, Gisselle Velez-Ruiz, Heather M. McLaughlin, et al. (2012). A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo. Human Mutation, 34(1), 191-199. https://doi.org/10.1002/humu.22210

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

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