Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1
- Chung Doug D.
- Frausto Ricardo F.
- Cervantes Aleck E.
- Gee Katherine M.
- Zakharevich Marina
- Hanser Evelyn M.
- Stone Edwin M.
- Heon Elise
- Aldave Anthony J.
DOIAbstract
coding region mutations. promoter activity., respectively. The c.-307T>C variant demonstrated increased promoter activity in corneal endothelial cells when compared to the wild-type sequence as has been demonstrated previously in another cell type. variants, or CNV involving the PPCD1 and PPCD3 loci in 26 other PPCD probands suggests that other genetic loci may be involved in the pathogenesis of PPCD
Add to ORKG