Associated Papers
SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.
Kovaleva PA et al.
Biomolecules, 2025
40563515 (PubMed )
Supplement: biomolecules-15-00875-s001.zip › biomolecules-3667328-supplementary.xlsx › SLC4A11_cases
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.
Loveridge-Easther C et al.
Ophthalmic Genetics, 2022
Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.
Liu M et al.
Ophthalmic Genetics, 2022
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Brejchova K et al.
Investigative Ophthalmology & Visual Science, 2019
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.
Zhang J et al.
Frontiers in Genetics, 2019
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