Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. [electronic resource]
Producer: 20010920Description: 1607-20 p. digitalISSN:- 0161-6420
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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