Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic...
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
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Author / Creator
Simon, Mariella , Richard, Elodie M , Wang, Xinjian , Shahzad, Mohsin , Huang, Vincent H , Qaiser, Tanveer A , Potluri, Prasanth , Mahl, Sarah E , Davila, Antonio , Nazli, Sabiha , Hancock, Saege , Yu, Margret , Gargus, Jay , Chang, Richard , Al-Sheqaih, Nada , Newman, William G , Abdenur, Jose , Starr, Arnold , Hegde, Rashmi , Dorn, Thomas , Busch, Anke , Park, Eddie , Wu, Jie , Schwenzer, Hagen , Flierl, Adrian , Florentz, Catherine , Sissler, Marie , Khan, Shaheen N , Li, Ronghua , Guan, Min-Xin , Friedman, Thomas B , Wu, Doris K , Procaccio, Vincent , Riazuddin, Sheikh , Wallace, Douglas C , Ahmed, Zubair M , Huang, Taosheng and Riazuddin, Saima
Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) r...
Alternative Titles
Full title
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
Authors, Artists and Contributors
Author / Creator
Richard, Elodie M
Wang, Xinjian
Shahzad, Mohsin
Huang, Vincent H
Qaiser, Tanveer A
Potluri, Prasanth
Mahl, Sarah E
Davila, Antonio
Nazli, Sabiha
Hancock, Saege
Yu, Margret
Gargus, Jay
Chang, Richard
Al-Sheqaih, Nada
Newman, William G
Abdenur, Jose
Starr, Arnold
Hegde, Rashmi
Dorn, Thomas
Busch, Anke
Park, Eddie
Wu, Jie
Schwenzer, Hagen
Flierl, Adrian
Florentz, Catherine
Sissler, Marie
Khan, Shaheen N
Li, Ronghua
Guan, Min-Xin
Friedman, Thomas B
Wu, Doris K
Procaccio, Vincent
Riazuddin, Sheikh
Wallace, Douglas C
Ahmed, Zubair M
Huang, Taosheng
Riazuddin, Saima
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Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1685140903
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685140903
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1005097
