Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 7, 2012, Pages 3463-3472

  Preising, Markus N ^a   Hausotter Will, Nora ^a   Solbach, Manuel C ^a   Friedburg, Christoph ^a   Rüschendorf, Franz ^b   Lorenz, Birgit ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE FUNDUS; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MOLECULAR GENETICS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE ANALYSIS; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RD3 GENE; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD; CONSANGUINITY; FEMALE; GENETICS; MALE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; PRESCHOOL CHILD; STOP CODON;

EYE PROTEIN; RD3 PROTEIN, HUMAN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONSANGUINITY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DYSTROPHIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

EID: 84865584494     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-9519     Document Type: Article

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