Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone–rod dystrophy in Israel

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 1, 2015, Pages 420-430

  Lazar, Csilla H ^a,b   Mutsuddi, Mousumi ^a,c   Kimchi, Adva ^d   Zelinger, Lina ^a,d   Mizrahi Meissonnier, Liliana ^d   Marks Ohana, Devorah ^d   Boleda, Alexis ^a   Ratnapriya, Rinki ^a   Sharon, Dror ^d   Swaroop, Anand ^a   Banin, Eyal ^a,d  

^a NATIONAL EYE INSTITUTE   (United States)

^b BABE BOLYAI UNIVERSITY   (Romania)

^c BANARAS HINDU UNIVERSITY   (India)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Inherited blindness; Next generation sequencing; Photoreceptor degeneration

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; C8ORF37 GENE; CDHR1 GENE; CHILD; COLOR VISION DEFECT; CONE DOMINATED RETINOPATHY; CONE DYSTROPHY; CONE ROD DYSTROPHY; ELECTRORETINOGRAPHY; EYE EXAMINATION; FAMILY HISTORY; GENE; GENE MUTATION; GENE SEQUENCE; GUCY2D GENE; HIGH MYOPIA; HUMAN; MIDDLE AGED; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINOPATHY; SCHOOL CHILD; VISUAL ACUITY; YOUNG ADULT; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETICS; ISRAEL; MALE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PREVALENCE; RETINA CONE; RETINITIS PIGMENTOSA;

CELL SURFACE RECEPTOR; DNA; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1;

DNA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXOME; FEMALE; GUANYLATE CYCLASE; HUMANS; ISRAEL; MALE; MUTATION; PEDIGREE; PHENOTYPE; PREVALENCE; RECEPTORS, CELL SURFACE; RETINAL CONE PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA;

EID: 84921453156     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15647     Document Type: Article

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