The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
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A. Munnich | N. Boddaert | A. Rötig | P. de Lonlay | A. Slama | A. Lèbre | E. Sarzi | V. Serre | M. Jambou | N. Brahimi | J. Bonnefont | S. Romano