De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease

Author: Brinckmann Anja   Rüther Klaus   Williamson Kathleen   Lorenz Birgit   Lucke Barbara   Nürnberg Peter   Trijbels Frans   Janssen Antoon   Schuelke Markus  

Publisher: Springer Publishing Company

ISSN: 0946-2716

Source: Journal of Molecular Medicine, Vol.85, Iss.2, 2007-02, pp. : 163-168

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