Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

Autor: Patterson, Karynne, Chong, Jessica X., Chung, Doug D., Lisch, Walter, Karp, Carol L., Dreisler, Erling, Lockington, David, Rohrbach, Jens M., Garczarczyk-Asim, Dorota, Müller, Thomas, Tuft, Stephen J., Skalicka, Pavlina, Wilnai, Yael, Samra, Nadra Naser, Ibrahim, Ali, Mandel, Hanna, Davidson, Alice E., Liskova, Petra, Aldave, Anthony J., Bamshad, Michael J., Janecke, Andreas R.
Zdroj: In American Journal of Ophthalmology February 2024 258:183-195
Databáze: ScienceDirect
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