Associated Papers
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
Tax G et al.
Traffic (copenhagen, Denmark), 2024
Rescue of secretion of a rare-disease associated mis-folded mutant glycoprotein in UGGT1 knock-out mammalian cells.
Tax G et al.
Biorxiv : the Preprint Server for Biology, 2023
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD).
Alehabib E et al.
International Journal of Molecular and Cellular Medicine, 2017
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Morantes S et al.
Cornea, 2016
Clinical and basic aspects of gelatinous drop-like corneal dystrophy.
Kawasaki S et al.
Developments in Ophthalmology, 2011
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Paliwal P et al.
Molecular Vision, 2010
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
Jing Y et al.
Molecular Vision, 2009
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.
Alavi A et al.
Investigative Ophthalmology & Visual Science, 2007
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.
Zhang B et al.
Molecular Vision, 2007
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.
Tian X et al.
American Journal of Ophthalmology, 2004
Select a paper to view details