The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study

American Journal of Ophthalmology

Volumn 139, Issue 6, 2005, Pages 1125-1126

  Baird, Paul N ^a,e   Richardson, Andrea J ^a   Craig, Jamie E ^a,b   Rochtchina, Elena ^c   MacKey, David A ^a,d   Mitchell, Paul ^c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b FLINDERS MEDICAL CENTRE   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF TASMANIA   (Australia)

^e CENTRE FOR EYE RESEARCH AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN;

ADULT; AGE DISTRIBUTION; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; OPEN ANGLE GLAUCOMA; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL;

AGED; CODON, TERMINATOR; COHORT STUDIES; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETICS, POPULATION; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; NEW SOUTH WALES; PREVALENCE;

EID: 20444454040     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.11.061     Document Type: Article

References (5)

1. W.L.M. Alward, J.H. Fingert, M.A. Coote Clinical features associated with mutations in the chromosome 1 open angle glaucoma gene (GLC1A) New Engl J Med 338 1998 1022 1027
2. P.N. Baird, J.E. Craig, A.J. Richardson Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin Hum Genet 112 2003 110 116
3. J.E. Craig, P.N. Baird, D.L. Healey Evidence for genetic heterogeneity within 8 glaucoma families, with the GLC1A Q368STOP mutation being an important phenotypic modifier Ophthalmology 108 2001 1607 1620
4. P. Mitchell, W. Smith, K. Attebo, P.R. Healy Prevalence of open-angle glaucoma in Australia The Blue Mountains Eye Study Ophthalmology 103 1996 1661 1669
5. E.M. Stone, J.H. Fingert, W.L. Alward Identification of a gene that causes primary open angle glaucoma Science 275 1997 668 670