Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy

Ophthalmology

Volumn 112, Issue 8, 2005, Pages 1442-1447

  Michaelides, Michel ^a,b   Wilkie, Susan E ^a   Jenkins, Sharon ^a,b   Holder, Graham E ^b   Hunt, David M ^a   Moore, Anthony T ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; GUANYLATE CYCLASE; GUANYLATE CYCLASE ACTIVATING PROTEIN 1; UNCLASSIFIED DRUG; VISUAL PIGMENT;

ADULT; AGED; ARTICLE; AUTOFLUORESCENCE; BLOOD SAMPLING; CLINICAL ARTICLE; COLOR VISION; CONTROLLED STUDY; DNA EXTRACTION; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; OPHTHALMOLOGY; PHENOTYPE; PHOTOGRAPHY; PHOTOPHOBIA; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETINA CONE; RETINA MACULA DEGENERATION; RETINA ROD; UNITED KINGDOM; VISION; VISUAL ACUITY;

ADULT; AGED; CALCIUM-BINDING PROTEINS; COLOR PERCEPTION TESTS; COLOR VISION DEFECTS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; GUANYLATE CYCLASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; RETINAL DEGENERATION;

EID: 23044475688     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2005.02.024     Document Type: Article

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