North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

Ophthalmology

Volumn 123, Issue 1, 2016, Pages 9-18

  Small, Kent W ^a   DeLuca, Adam P ^b   Whitmore, S Scott ^b   Rosenberg, Thomas ^c,d   Silva Garcia, Rosemary ^a   Udar, Nitin ^a   Puech, Bernard ^e   Garcia, Charles A ^f   Rice, Thomas A ^g   Fishman, Gerald A ^h   Heon, Elise ⁱ   Folk, James C ^b   Streb, Luan M ^b   Haas, Christine M ^b   Wiley, Luke A ^b   Scheetz, Todd E ^b   Fingert, John H ^b   Mullins, Robert F ^b   Tucker, Budd A ^b   Stone, Edwin M ^b  

^a Molecular Insight Research Foundation   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF TEXAS   (United States)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Pangere Center for Inherited Retinal Diseases   (United States)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEASE I; RECOVERIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PRDM13; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG; EYE PROTEIN; MCDR1 PROTEIN, HUMAN; RNA;

ADULT; ARTICLE; CHROMOSOME 5; CHROMOSOME 6; CHROMOSOME 6Q; CLINICAL FEATURE; CONTROLLED STUDY; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; GENOMIC FRAGMENT; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MACULAR DEGENERATION; NEXT GENERATION SEQUENCING; NORTH CAROLINA MACULAR DYSTROPHY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHORT TANDEM REPEAT; VISUAL ACUITY; ADOLESCENT; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; EYE FUNDUS; FAMILY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETICS; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; CORNEAL DYSTROPHIES, HEREDITARY; EYE PROTEINS; FAMILY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; GENETIC LINKAGE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84950985004     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2015.10.006     Document Type: Article

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