Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

Molecular Vision

Volumn 18, Issue , 2012, Pages 3064-3069

  Young, Thomas K ^a   Souzeau, Emmanuelle ^b   Liu, Lance ^c   Kearns, Lisa S ^a   Burdon, Kathryn P ^b   Craig, Jamie E ^b   Ruddle, Jonathan B ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b FLINDERS UNIVERSITY   (Australia)

^c Preston Eye Clinic   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MYOCILIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MARKER; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HETEROZYGOTE DETECTION; HUMAN; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MALE; MOLECULAR PATHOLOGY; MYOCILIN GENE; OPEN ANGLE GLAUCOMA; PEDIGREE ANALYSIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL FIELD;

ADULT; AGED; ALLELES; AUSTRALIA; CASE-CONTROL STUDIES; CYTOSKELETAL PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; OCULAR HYPERTENSION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84872858876     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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