Article
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
Molecular vision - 1 Jan 2011
Du Chunyu, Li Ying, Dai Lili, Gong Lingmin, Han Chengcheng
Abstract excerpt
PURPOSE: To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). METHODS: A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. The complete ophthalmic examination was performed and blood samples were taken for subsequent genetic analysis....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.