| 1 | CSNB, CSNB8, GRK1, SAG
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| Oguchi type I caused by a homozygous missense variation in the SAG gene.
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| Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L.
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| Eur J Med Genet ur J Med Genet. 2018 Sep 27. pii: S1769-7212(18)30300-8. doi: 10.1016/j.ejmg.2018.09.015. [Epub ahead of print]
2018
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| 2 | CSNB, CSNB4, SAG
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| Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
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| .Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N
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| Jpn J Ophthalmol. 48 :350-2 2004
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| 3 | CSNB, SAG
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| Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)
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| Chen J, Simon MI, Matthes MT, Yasumura D, LaVail MM.
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| Invest Ophthalmol Vis Sci. 40(12):2978-82. 1999
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| 4 | CSNB, CSNB4, SAG
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| Arrestin gene mutations in autosomal recessive retinitis pigmentosa.
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| Nakazawa M, et al.
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| Arch Ophthalmol 116 : 498-501. 1998
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| 5 | CSNB, CSNB4, SAG
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| A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
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| Fuchs S, et al.
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| Nat Genet 10 : 360-362. 1995
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