Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome (Q44951065)

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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
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    Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome (English)
    Daniela Buhas
    Florin Sasarman
    Simon Papillon-Cavanagh
    Isabelle Thiffault
    Katherine M Sheldon
    Christine Massicotte
    Lysanne Patry
    Amir S Zare
    Richard G Boles
    Cheri L Deal
    Valerie Desilets
    Eric A Shoubridge
    Mark E Samuels
    18 October 2014
    1285-1289

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