Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Craig, J E

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. [electronic resource] - Ophthalmology Sep 2001 - 1607-20 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0161-6420

10.1016/s0161-6420(01)00654-6 doi


Adult
Aged
Aged, 80 and over
Codon, Nonsense
Cross-Sectional Studies
Cytoskeletal Proteins
DNA Mutational Analysis
Effect Modifier, Epidemiologic
Eye Proteins--genetics
Female
Genetic Carrier Screening
Genetic Heterogeneity
Glaucoma, Open-Angle--diagnosis
Glutamine
Glycoproteins--genetics
Humans
Intraocular Pressure
Male
Middle Aged
Optic Disk--pathology
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Tasmania--epidemiology
Visual Fields