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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature |
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| Authors: | A. Hedergott A. E. Volk P. Herkenrath H. Thiele J. Fricke J. Altmüller P. Nürnberg C. Kubisch A. Neugebauer |
| Affiliation: | 1. Department of Ophthalmology, University Hospital Cologne, Joseph Stelzmann Str.9, D-50931, Cologne, Germany 2. Institute of Human Genetics, Ulm University, 89081, Ulm, Germany 3. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany 4. Department of Paediatrics, University Hospital Cologne, 50931, Cologne, Germany 5. Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany 6. Institute of Human Genetics, University Hospital Cologne, 50931, Cologne, Germany 7. University of Cologne, Center for Molecular Medicine Cologne (CMMC), 50931, Cologne, Germany 8. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany |
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| 本文献已被 SpringerLink 等数据库收录！ | |