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
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
Firasat S et al.
Molecular Biology Reports, 2021
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Ramprasad VL et al.
Human Mutation, 2007
Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.
Kumar A et al.
Molecular Vision, 2007
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