Variable clinical spectrum of the myocilin Gln368X mutation in a dutch family with primary open angle glaucoma

Current Eye Research

Volumn 35, Issue 1, 2010, Pages 31-36

  Hogewind, Barend F T ^a,b   Mukhopadhyay, Arijit ^a   Theelen, Thomas ^a   Den Hollander, Anneke I ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

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

Author keywords

Myocilin; P.Gln368X founder mutation; Pedigree; Primary open angle glaucoma; Reduced penetrance

Indexed keywords

CYTOCHROME P450 1B1; GLUTAMINE; MYOCILIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GLAUCOMATOUS OPTIC NEUROPATHY; HUMAN; MUTATIONAL ANALYSIS; NETHERLANDS; OPEN ANGLE GLAUCOMA; OPTIC NERVE DISEASE; PHENOTYPE; PRIORITY JOURNAL; VISUAL FIELD DEFECT; VISUAL SYSTEM EXAMINATION;

ADULT; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; OPTIC NERVE DISEASES; PEDIGREE; POLYMERASE CHAIN REACTION; VISION DISORDERS; VISUAL FIELDS;

EID: 73649101004     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.3109/02713680903374182     Document Type: Article

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