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Reference Info.
Pubmed ID 21464306  
RRC ID 11171 
Author Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. 
Title Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. 
Journal Proc. Natl. Acad. Sci. U.S.A. 
Published 2011-4-19 
Volume 108(16) 
Pages 6543-8 
DOI 10.1073/pnas.1103471108   
PII 1103471108 
Alternative Splicing / genetics
Amino Acid Substitution
Amino Acyl-tRNA Synthetases / genetics
Amino Acyl-tRNA Synthetases / metabolism*
Caenorhabditis elegans / enzymology
Caenorhabditis elegans / genetics
Gonadal Dysgenesis, 46,XX / enzymology
Gonadal Dysgenesis, 46,XX / genetics
Hearing Loss, Sensorineural / enzymology
Hearing Loss, Sensorineural / genetics
Histidine-tRNA Ligase / genetics
Histidine-tRNA Ligase / metabolism
Mitochondrial Proteins / genetics
Mitochondrial Proteins / metabolism*
Mutation, Missense*
Saccharomyces cerevisiae / enzymology
Saccharomyces cerevisiae / genetics
Resource Info.
Species C.elegans 
Resource name

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