| 1 | SPATA7
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| Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
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| Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
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| Invest Ophthalmol Vis Sci. 52(6):3032-8. 2011
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| 2 | SPATA7
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| Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
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| Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM.
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| Hum Mutat. 31(3):E1241-50. 2010
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| 3 | LCA3, SPATA7
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| Mutations in SPATA7 cause leber congenital amaurosis and juvenile retinitis pigmentosa.
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| Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R.
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| Am J Hum Genet 84(3):380-7. Epub 2009 Mar 5.
2009
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| 4 | SPATA7
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| A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.
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| Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S, Koide SS.
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| J Mol Med 81(6):380-7. Epub 2003 May 08. 2003
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