Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

doi:10.1016/S0161-6420(98)99041-8

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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

Ophthalmology - 1 Sept 1998

Richards J E, Ritch R, Lichter P R, Rozsa F W, Stringham H M, Caronia R M, Johnson D, Abundo G P, Willcockson J, Downs C A, Thompson D A, Musarella M A, Gupta N, Othman M I, Torrez D M, Herman S B, Wong D J, Higashi M, Boehnke M

Abstract excerpt

OBJECTIVE: This study aimed to update a large kindred with juvenile-onset primary open-angle glaucoma (POAG) first described in 1940 and to identify the underlying genetic cause of the disease. DESIGN: Molecular genetic study of a single kindred, including clinical examination, retrospective review of clinical and family history records, linkage analysis, and mutation screening. PARTICIPANTS: The retrospective...

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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

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