| 1 | CSNB1A, CSNB1B, CSNB1C, CSNB1E, CSNB2A, CSNB2B, GPR179, RCD4
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| Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
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| 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.
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| Am J Hum Genet 90(2):321-30. 2012
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| 2 | CSNB1C, TRPM1
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| TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
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| Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, Koike C, Kadowaki M, Kondo M, Miyake Y, Furukawa T.
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| Mol Vis 16:425-37.
2010
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| 3 | CSNB1C, TRPM1
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| Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
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| Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR.
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| Am J Hum Genet 85(5):711-9. Epub 2009 Oct 29.PMID: 19878917 2009
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| 4 | CSNB1C, TRPM1
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| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
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| Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.
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| Am J Hum Genet 85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 2009
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| 5 | CSNB1C, TRPM1
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| Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
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| van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M.
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| Am J Hum Genet 85(5):730-6. Epub 2009 Nov 5.PMID: 19896109 2009
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