Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy

PURPOSE: The purpose of this study was to explore the pathogenicity and function of two novel SLC4A11 variants associated with congenital hereditary endothelial dystrophy (CHED) and to study the function of a SLC4A11 (K263R) mutant in vitro. METHODS: Ophthalmic examinations were performed on a 28-ye...

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Detalles Bibliográficos
Autores principales: Zhen, Tianjiao, Li, Ya, Guo, Qingge, Yao, Shun, You, Ya, Lei, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Cornea & External Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561774/
https://www.ncbi.nlm.nih.gov/pubmed/37787991
http://dx.doi.org/10.1167/tvst.12.10.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561774/
https://www.ncbi.nlm.nih.gov/pubmed/37787991
http://dx.doi.org/10.1167/tvst.12.10.1

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