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

Ophthalmology

Volumn 108, Issue 9, 2001, Pages 1607-1620

  Craig, Jamie E ^a,b   Baird, Paul N ^a,c   Healey, Danielle L ^a   McNaught, Andrew I ^a,b   McCartney, Paul J ^b   Rait, Julian L ^a   Dickinson, Joanne L ^b   Roe, Lynne ^c   Fingert, John H ^d   Stone, Edwin M ^d   Mackey, David A ^a,b,e  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF TASMANIA   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF IOWA   (United States)

^e ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE;

ADULT; AGED; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GLAUCOMA; HORMONE RESPONSE; HUMAN; MALE; MULTIGENE FAMILY; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TRABECULAR MESHWORK;

ADULT; AGED; AGED, 80 AND OVER; CODON, NONSENSE; CROSS-SECTIONAL STUDIES; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EFFECT MODIFIERS (EPIDEMIOLOGY); EYE PROTEINS; FEMALE; GENETIC HETEROGENEITY; GLAUCOMA, OPEN-ANGLE; GLUTAMINE; GLYCOPROTEINS; HETEROZYGOTE DETECTION; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; OPTIC DISK; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TASMANIA; VISUAL FIELDS;

EID: 0034868797     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(01)00654-6     Document Type: Article

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