CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 12, 2009, Pages 5944-5954

  Aleman, Tomas S ^a   Soumittra, Nagasamy ^b   Cideciyan, Artur V ^a   Sumaroka, Alexander M ^a   Ramprasad, Vedam Lakshmi ^b   Herrera, Waldo ^a   Windsor, Elizabeth A M ^a   Schwartz, Sharon B ^a   Russell, Robert C ^a   Roman, Alejandro J ^a   Inglehearn, Chris F ^c   Kumaramanickavel, Govindasamy ^b   Stone, Edwin M ^d   Fishman, Gerald A ^e   Jacobson, Samuel G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b VISION RESEARCH FOUNDATION   (India)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF IOWA   (United States)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL RECESSIVE DISORDER; CENTRAL SCOTOMA; CERKL GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KINETICS; MALE; NERVE FIBER DEGENERATION; OPTIC NERVE FIBER; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; RETINA DEGENERATION; RETINA FOVEA; RETINA MACULOPATHY; RETINA MALFORMATION; RETINA ROD; RETINOPATHY; SIBLING; VISUAL ACUITY; VISUAL IMPAIRMENT; ADOLESCENT; CHILD; FLUORESCENCE; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PERIMETRY; PHOTORECEPTOR CELL; PHYSIOLOGY; PRESCHOOL CHILD; RECESSIVE GENE; VISUAL FIELD;

CERAMIDE KINASE; PHOSPHOTRANSFERASE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENCE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUTATION; PERIMETRY; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PHOTORECEPTOR CELLS, VERTEBRATE; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS;

EID: 73349127474     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3982     Document Type: Article

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