Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 105 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells;PLOS ONE;2024-01-22
2. Developmental Anomalies of the Cornea and Iris in Neonates;Principles of Neonatology;2024
3. Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2;Nature Communications;2023-10-03
4. Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy;Translational Vision Science & Technology;2023-10-03
5. Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy;Frontiers in Medicine;2023-06-27
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