Article
A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
American journal of ophthalmology - 1 Feb 2006
Hewitt Alex W, Bennett Sonya L, Dimasi David P, Craig Jamie E, Mackey David A
Abstract excerpt
PURPOSE: To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members. DESIGN: Cascade screening was performed for Australian families that had been identified as having the myocilin Gln368STOP mutation. METHODS: Recruited subjects underwent comprehensive clinical examination and mutation analysis for the Gln368STOP myocilin mutation by...
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