De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA
Abstract
:1. Background
2. Case Presentation
2.1. Clinical Analysis
2.2. Molecular Genetic Analysis
2.3. Confirmation of Paternity
3. Discussion and Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
Appendix A. Materials and Methods
Appendix A.1. Patients and Clinical Evaluation
Appendix A.2. Genomic DNA Preparation and Mutation Analysis
References
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Ji, Y.W.; Ahn, H.; Shin, K.-J.; Kim, T.-i.; Seo, K.Y.; Stulting, R.D.; Kim, E.K. De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA. J. Clin. Med. 2022, 11, 3055. https://doi.org/10.3390/jcm11113055
Ji YW, Ahn H, Shin K-J, Kim T-i, Seo KY, Stulting RD, Kim EK. De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA. Journal of Clinical Medicine. 2022; 11(11):3055. https://doi.org/10.3390/jcm11113055
Chicago/Turabian StyleJi, Yong Woo, Hyunmin Ahn, Kyoung-Jin Shin, Tae-im Kim, Kyoung Yul Seo, R. Doyle Stulting, and Eung Kweon Kim. 2022. "De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA" Journal of Clinical Medicine 11, no. 11: 3055. https://doi.org/10.3390/jcm11113055