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Jenkinson, Emma M; Rehman, Atteeq U; Walsh, Tom et al. (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92:605-13
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Pierce, Sarah B; Gersak, Ksenija; Michaelson-Cohen, Rachel et al. (2013) Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet 92:614-20
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Yan, Denise; Zhu, Yan; Walsh, Tom et al. (2013) Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A 110:2228-33
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Pierce, Sarah B; Chisholm, Karen M; Lynch, Eric D et al. (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 108:6543-8
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