Article
Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
Molecular vision - 21 Feb 2006
Vanita Vanita, Hejtmancik James Fielding, Hennies Hans Christian, Guleria Kamlesh, Nürnberg Peter, Singh Daljit, Sperling Karl, Singh Jai Rup
Abstract excerpt
PURPOSE: The molecular characterization of 27 members of an Indian family, with 13 members in four generations, affected with Y-sutural congenital cataract. METHODS: Detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint lod score and haplotype analysis was performed. Mutation screening...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
