Publications by authors named "Mairide McGuire"
Ophthalmic Genet
November 2017
Article Synopsis
- CHED is a genetic disorder affecting the corneal endothelial cells, leading to corneal clouding and vision issues, with two forms linked to different genetic mutations on chromosome 20.
- Researchers studied a large family with CHED2, performing genetic analysis on the SLC4A11 gene associated with the condition.
- A specific mutation (Leu843Pro) in the SLC4A11 gene was identified in affected family members, making this the first documented instance of this mutation in its homozygous form.
