Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome-Reference-Cited by-同舟云学术

Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Published:2014-10-23 Issue:1 Volume:3 Page:59-68
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sofou Kalliopi¹,Kollberg Gittan²,Holmström Maria²,Dávila Marcela³,Darin Niklas¹,Gustafsson Claes M.⁴,Holme Elisabeth²,Oldfors Anders⁵,Tulinius Már¹,Asin-Cayuela Jorge²

Affiliation:

1. Department of Pediatrics; University of Gothenburg; The Queen Silvia's Children Hospital; Gothenburg Sweden

2. Department of Clinical Chemistry; University of Gothenburg; Sahlgrenska University Hospital; Gothenburg Sweden

3. Bioinformatics Core Facility; University of Gothenburg; Gothenburg Sweden

4. Department of Medical Biochemistry and Cell Biology; University of Gothenburg; Gothenburg Sweden

5. Department of Pathology; University of Gothenburg; Sahlgrenska University Hospital; Gothenburg Sweden

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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5. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome;Belostotsky;Am. J. Hum. Genet.,2011

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