ATF6 is mutated in early onset photoreceptor degeneration with macular involvement

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 6, 2015, Pages 3889-3895

  Xu, Mingchu ^a   Gelowani, Violet ^a   Eblimit, Aiden ^a   Wang, Feng ^a   Young, Marielle P ^b   Sawyer, Briana L ^b   Zhao, Li ^a   Jenkins, Glen ^b   Creel, Donnell J ^b   Wang, Keqing ^a   Ge, Zhongqi ^a   Wang, Hui ^a   Li, Yumei ^a   Hartnett, M Elizabeth ^b   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

ATF6; Next generation sequencing; Photoreceptor degeneration; Unfolded protein response

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 6; GENOMIC DNA; ATF6 PROTEIN, HUMAN;

ACTIVATING TRANSCRIPTION FACTOR 6 GENE; ALLELE; ARTICLE; BIOINFORMATICS; BLOOD SAMPLING; CASE REPORT; CHILD; DNA LIBRARY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; OPHTHALMOSCOPY; PHOTORECEPTOR DEGENERATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINOSCOPY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; AGE; GENETICS; MUTATION; PATHOLOGY; PHOTORECEPTOR CELL; RETINA DISEASE; RETINA MACULA LUTEA;

ACTIVATING TRANSCRIPTION FACTOR 6; AGE FACTORS; CHILD, PRESCHOOL; FEMALE; HUMANS; MACULA LUTEA; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; RETINAL DISEASES;

EID: 84939864652     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.15-16778     Document Type: Article

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