Article
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.
Molecular vision - 28 Mar 2007
Hewitt Alex W, Samples John R, Allingham R Rand, Järvelä Irma, Kitsos George, Krishnadas Subbaiah R, Richards Julia E, Lichter Paul R, Petersen Michael B, Sundaresan Periasamy, Wiggs Janey L, Mackey David A, Wirtz Mary K
Abstract excerpt
PURPOSE: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds. METHODS: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms....
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