Associated Papers
Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Xiao X et al.
Journal of Cellular Biochemistry, 2024
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR et al.
Scientific Reports, 2021
Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).
Young BP et al.
Ophthalmology. Glaucoma, 0
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