Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands

Molecular Vision

Volumn 13, Issue , 2007, Pages 1793-1801

  Hogewind, Barend F T ^a   Gaplovska Kysela, Katarina ^b   Theelen, Thomas ^a   Cremers, Frans P M ^c   Yam, Gary H E ^d   Hoyng, Carel B ^a   Mukhopadhyay, Arijit ^c,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^e CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DETERGENT; GENOMIC DNA; LEUCINE; MYOCILIN; OCTOXINOL; PHENYLALANINE;

ADULT; AGED; ALLELE; ANAMNESIS; ANTERIOR EYE CHAMBER ANGLE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GONIOSCOPY; HAPLOTYPE; HUMAN; IMMUNOPRECIPITATION; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; MUTANT; NETHERLANDS; OPEN ANGLE GLAUCOMA; OPTIC NERVE DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; VISUAL FIELD DEFECT; WILD TYPE;

ADULT; AGE OF ONSET; AGED; ALLELES; ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; CYTOSKELETAL PROTEINS; EXONS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LEUCINE; MALE; MUTATION; NETHERLANDS; PEDIGREE; PHENYLALANINE; SEVERITY OF ILLNESS INDEX;

EID: 34848916636     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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