Article
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2003
Mackey David A, Healey Danielle L, Fingert John H, Coote Michael A, Wong Tiffany L, Wilkinson Colleen H, McCartney Paul J, Rait Julian L, de Graaf A Pauline, Stone Edwin M, Craig Jamie E
Abstract excerpt
OBJECTIVE: To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the myocilin mutation Thr377Met. METHOD AND DESIGN: Cross-sectional genetic study. Four unrelated pedigrees carrying the Thr377Met mutation were ascertained from more than 2000 consecutive cases of POAG in the Glaucoma Inheritance Study in Tasmania and from families with glaucoma...
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