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

• Published in: Journal of molecular medicine (Berlin, Germany) Vol. 85; no. 2; pp. 163 - 168
• Main Authors: BRINCKMANN, Anja, RÜTHER, Klaus, WILLIAMSON, Kathleen, LORENZ, Birgit, LUCKE, Barbara, NÜRNBERG, Peter, TRIJBELS, Frans, JANSSEN, Antoon, SCHUELKE, Markus
• Format: Journal Article
• Language: English
• Published: Berlin Springer 2007
• Subjects: Biological and medical sciences; General aspects; Malformations of the eye; Medical sciences; Ophthalmology; Heteroplasmy· PAX6· Ptosis· Nystagmus; mtDNA; Ptosis; Metabolic diseases; Uvea disease; Mitochondrial DNA; Enzymopathy; Congenital disease; Mitochondrial disorder; De novo; Genetic disease; Medicine; Eye disease; Malformation; Eyelid disease; Heteroplasmy; Aniridia; Nystagmus; Pyrosequencing; Genetics; Atypical; Mutation; Oculomotor syndrome