The K153Δel PRPH2 mutation differentially impacts photoreceptor structure and function

Human Molecular Genetics

Volumn 25, Issue 16, 2016, Pages 3500-3514

  Chakraborty, Dibyendu ^a   Conley, Shannon M ^a   Zulliger, Rahel ^b   Naash, Muna I ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF HOUSTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PERIPHERIN; PERIPHERIN 2; RHODOPSIN; TETRASPANIN; UNCLASSIFIED DRUG; CODON; RDS PROTEIN, HUMAN; RDS PROTEIN, MOUSE;

ARTICLE; CODON; COMPLEX FORMATION; CONTROLLED STUDY; COVALENT BOND; DISEASE ASSOCIATION; GENE DELETION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HOUSEKEEPING GENE; HUMAN; PHENOTYPE; PHOTOPIC VISION; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; RETINAL PIGMENT EPITHELIUM; RETINAL ROD OUTER SEGMENT; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION; ULTRASTRUCTURE; ANIMAL; GENE TARGETING; GENETICS; METABOLISM; MOUSE; PATHOPHYSIOLOGY; RETINA CONE; RETINA DEGENERATION; RETINA ROD;

ANIMALS; CODON; GENE KNOCK-IN TECHNIQUES; HETEROZYGOTE; HUMANS; MICE; PERIPHERINS; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; SEQUENCE DELETION;

EID: 85014377893     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw193     Document Type: Article

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