De novo double mutation in PAX6 and mtDNA tRNALys associated with atypical aniridia and mitochondrial disease
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| Published in | Journal of molecular medicine (Berlin, Germany) Vol. 85; no. 2; pp. 163 - 168 |
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| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Berlin
Springer
2007
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| Subjects | |
| Online Access | Get full text |
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| Author | LORENZ, Birgit BRINCKMANN, Anja NÜRNBERG, Peter RÜTHER, Klaus LUCKE, Barbara TRIJBELS, Frans JANSSEN, Antoon WILLIAMSON, Kathleen SCHUELKE, Markus |
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| Author_xml | – sequence: 1 givenname: Anja surname: BRINCKMANN fullname: BRINCKMANN, Anja organization: Department of Biology, Chemistry and Pharmacy, Free University Berlin, Berlin, Germany – sequence: 2 givenname: Klaus surname: RÜTHER fullname: RÜTHER, Klaus organization: Department of Ophthalmology, Charité Universitätsmedizin Berlin, Berlin, Germany – sequence: 3 givenname: Kathleen surname: WILLIAMSON fullname: WILLIAMSON, Kathleen organization: MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom – sequence: 4 givenname: Birgit surname: LORENZ fullname: LORENZ, Birgit organization: Department of Neuropediatrics and Neuroscience Research Center, Charité Universitätsmedizin Berlin, Berlin, Germany – sequence: 5 givenname: Barbara surname: LUCKE fullname: LUCKE, Barbara organization: Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Regensburg, Germany – sequence: 6 givenname: Peter surname: NÜRNBERG fullname: NÜRNBERG, Peter organization: Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany – sequence: 7 givenname: Frans surname: TRIJBELS fullname: TRIJBELS, Frans organization: Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center St. Radboud, Nijmegen, Netherlands – sequence: 8 givenname: Antoon surname: JANSSEN fullname: JANSSEN, Antoon organization: Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center St. Radboud, Nijmegen, Netherlands – sequence: 9 givenname: Markus surname: SCHUELKE fullname: SCHUELKE, Markus organization: Department of Neuropediatrics and Neuroscience Research Center, Charité Universitätsmedizin Berlin, Berlin, Germany |
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| Keywords | 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 |
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| SubjectTerms | Biological and medical sciences General aspects Malformations of the eye Medical sciences Ophthalmology |
| Title | De novo double mutation in PAX6 and mtDNA tRNALys associated with atypical aniridia and mitochondrial disease |
| Volume | 85 |
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