1 | CZP3, GJA3
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| A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
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| Bennett TM, Shiels A.
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| Mol Vis. 17:2255-62. 2011
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2 | CZP3, GJA3
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| A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
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| Yao K, Wang W, Zhu Y, Jin C, Shentu X, Jiang J, Zhang Y, Ni S.
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| Hum Mutat 32(12):1367-70. doi: 10.1002/humu.21552. Epub 2011 Sep 9.
2011
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3 | CZP3, GJA3
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| A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
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| Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V.
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| Mol Vis 13:1657-65.
2007
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4 | GJA3, CZP3
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| An aberrant sequence in a connexin46 mutant underlies congenital cataracts.
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| Minogue PJ, Liu X, Ebihara L, Beyer EC, Berthoud VM.
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| J Biol Chem 280(49):40788-95. Epub 2005 Oct 3. 2005
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5 | GJA3, CZP3
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| A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
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| Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L.
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| Mol Vis 9:579-83. 2003
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6 | CZP3, GJA3
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| Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
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| Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J.
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| Hum Genet 106(2):206-9. 2000
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7 | CZP3, GJA3
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| Connexin46 mutations in autosomal dominant congenital cataract.
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| Mackay D, et al.
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| Am J Hum Genet 64(5):1357-64. 1999
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8 | CZP3
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| A new locus for dominant zonular pulverulent cataract, on chromosome 13.
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| Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A.
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| Am J Hum Genet 60(6):1474-8. 1997
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