Mutations inFARS2and non-fatal mitochondrial dysfunction in two siblings-Reference-Cited by-同舟云学术

Mutations inFARS2and non-fatal mitochondrial dysfunction in two siblings

Published:2015-04-06 Issue:5 Volume:167 Page:1147-1151
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Vernon Hilary J¹²³,McClellan Rebecca¹,Batista Denise AS⁴,Naidu Sakkubai¹⁵³

Affiliation:

1. Department of Neurogenetics; Hugo W. Moser Research Institute at Kennedy Krieger Institute; Baltimore Maryland

2. McKusick-Nathans Institute of Genetic Medicine; Baltimore Maryland

3. Department of Pediatrics; Johns Hopkins School of Medicine; Baltimore Maryland

4. Department of Pathology; Baltimore Maryland

5. Department of Neurology; Baltimore Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36993/fullpdf

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2. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency;Almalki;BiochimBiophysActa,2014

3. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy;Elo;Hum Mol Genet,2012

4. Partition of tRNA synthetases into two classes based on mutually exclusive sets of sequence motifs;Eriani;Nature,1990

5. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase;Klipcan;Structure,2008

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