Article
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Investigative ophthalmology & visual science - 1 Jun 2004
Pras Eran, Raz Judith, Yahalom Vered, Frydman Moshe, Garzozi Hanna J, Pras Elon, Hejtmancik J Fielding
Abstract excerpt
PURPOSE: To identify the genetic defect associated with autosomal recessive congenital cataract in four Arab families from Israel. METHODS: Genotyping was performed using microsatellite markers spaced at approximately 10 cM intervals. Two-point lod scores were calculated using MLINK of the LINKAGE program package. Mutation analysis of the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2) gene was performed by...
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