Article
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
Investigative ophthalmology & visual science - 1 Feb 2006
Petersen Michael B, Kitsos George, Samples John R, Gaudette N Donna, Economou-Petersen Effrosini, Sykes Renée, Rust Kristal, Grigoriadou Maria, Aperis George, Choi Dongseok, Psilas Konstantinos, Craig Jamie E, Kramer Patricia L, Mackey David A, Wirtz Mary K
Abstract excerpt
PURPOSE: POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS: The three exons of MYOC were screened by denaturing (d)HPLC. Samples...
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