Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

Ophthalmology

Volumn 107, Issue 1, 2000, Pages 55-61

  Gregory Evans, Kevin ^a,b   Kelsell, Rosemary E ^c   Gregory Evans, Cheryl Y ^b   Downes, Susan M ^a   Fitzke, Fred W ^c   Holder, Graham E ^a   Simunovic, Matthew ^d   Mollon, John D ^d   Taylor, Rachel ^a   Hunt, David M ^c   Bird, Alan C ^a   Moore, Anthony T ^a  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b WESTERN EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UK   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE;

ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; RETINA CONE; RETINA MALFORMATION; RETINA ROD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; COLOR VISION DEFECTS; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; GUANYLATE CYCLASE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MYOPIA; NYSTAGMUS, PATHOLOGIC; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; PHOTOTRANSDUCTION; POINT MUTATION; PROSPECTIVE STUDIES; RETINAL DEGENERATION; VISUAL ACUITY;

EID: 0034127607     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(99)00038-X     Document Type: Article

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