Publications by authors named "Apiradi Prechanond"
Article Synopsis
- The study aimed to investigate if a specific mutation in the TGFBI gene is linked to a condition involving amyloid deposits in the cornea.
- Involving 8 patients, methods included slit lamp examinations, DNA analysis from buccal swabs, and sequencing the entire TGFBI gene to look for mutations.
- Results showed amyloid deposits in all patients and identified one new genetic variant; however, no known pathogenic mutations were found, indicating that TGFBI mutations are not the cause of this condition.
Purpose: To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD).
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