A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 8, 2012, Pages 4748-4753

  Hughes, Anne E ^a   Meng, Weihua ^a   Lotery, Andrew J ^b   Bradley, Declan T ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTRAL AREOLAR CHOROIDAL DYSTROPHY; CHROMOSOME 17; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GUCY2D GENE; HUMAN; LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SINGLE NUCLEOTIDE POLYMORPHISM; CHOROID DISEASE; FEMALE; GENETIC LINKAGE; GENETICS; UNITED KINGDOM;

CELL SURFACE RECEPTOR; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1;

CHOROID DISEASES; FEMALE; GENETIC LINKAGE; GUANYLATE CYCLASE; HUMANS; MUTATION, MISSENSE; NORTHERN IRELAND; RECEPTORS, CELL SURFACE;

EID: 84866494994     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10061     Document Type: Article

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