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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

✍ Scribed by S. Amer Riazuddin; Norann A. Zaghloul; Amr Al-Saif; Lisa Davey; Bill H. Diplas; Danielle N. Meadows; Allen O. Eghrari; Mollie A. Minear; Yi-Ju Li; Gordon K. Klintworth; Natalie Afshari; Simon G. Gregory; John D. Gottsch; Nicholas Katsanis


Book ID
113422746
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
931 KB
Volume
86
Category
Article
ISSN
0002-9297

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Missense mutations in the sodium borate
✍ S. Amer Riazuddin; Eranga N. Vithana; Li-Fong Seet; Yangjian Liu; Amr Al-Saif; L πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 366 KB

Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late-onset Fuchs corneal dystrophy (FCD), a common age-related disorder, were also