Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model

Investigative ophthalmology & visual science

Volumn 54, Issue 10, 2013, Pages 6973-6981

  Klooster, Jan ^a   van Genderen, Maria M ^a   Yu, Minzhong ^a   Florijn, Ralph J ^a   Riemslag, Frans C C ^a   Bergen, Arthur A B ^a   Gregg, Ronald G ^a   Peachey, Neal S ^a   Kamermans, Maarten ^a  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

Author keywords

CSNB1; G protein coupled receptor; GPR179; missense mutations; pathogenicity; trafficking defect

Indexed keywords

G PROTEIN COUPLED RECEPTOR; GPR179 PROTEIN, MOUSE;

ADOLESCENT; ANIMAL; AUTOPSY; DENDRITE; ELECTRORETINOGRAPHY; EYE DISEASE; FEMALE; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MOUSE; MYOPIA; NIGHT BLINDNESS; PATHOPHYSIOLOGY; RETINA; ULTRASTRUCTURE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ANIMALS; AUTOPSY; DENDRITES; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICE; MYOPIA; NIGHT BLINDNESS; RECEPTORS, G-PROTEIN-COUPLED; RETINA;

EID: 84890106838     PISSN: None     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-12293     Document Type: Article

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