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Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

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author: Agnès Rötig  Valérie Malan  Pascale de Lonlay  Anne-Sophie Lèbre  Arnold Munnich  Coralie Haudry  Jean-Paul Bonnefont 

Publication date October 22, 2012
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