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Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

✍ Scribed by S. Amer Riazuddin; David S. Parker; Elyse J. McGlumphy; Edwin C. Oh; Benjamin W. Iliff; Thore Schmedt; Ula Jurkunas; Robert Schleif; Nicholas Katsanis; John D. Gottsch


Book ID
113423179
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
853 KB
Volume
90
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 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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