Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy (Q28285772)

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
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    Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy (English)
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    R Mineri
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    M Rimoldi
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    A B Burlina
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    S Koskull
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    C Perletti
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    B Heese
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    U von Döbeln
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    I Di Meo
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    M Zeviani
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    G Uziel
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    July 2008
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    45
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    7
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    473-8
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