词条 | GPR179 |
释义 |
Clinical relevanceMutations in this gene have been associated to cases of congenital stationary Night Blindness.[2] References1. ^{{cite web | title = Entrez Gene: GPR179 G protein-coupled receptor 179| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=440435| accessdate = }} 2. ^{{cite journal |vauthors=Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C | title = Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. | journal = American Journal of Human Genetics | volume = 90 | issue = 2 | pages = 321–30 | date = Feb 10, 2012 | pmid = 22325361 | pmc = 3276675 | doi = 10.1016/j.ajhg.2011.12.007 }} Further reading{{refbegin}}
1 : G protein-coupled receptors |
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