1 | GJA8, CZP1
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| A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
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| Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT.
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| J Med Genet 45(3):155-60. Epub 2007 Nov 15. 2008
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2 | CZP1, GJA8
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| A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
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| Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X.
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| Mol Vis 14:418-24.PMID: 18334966 2008
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3 | ADCC1, CCL, CRYAA, CRYGD, CZP1, GJA8
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| Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
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| Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.
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| Invest Ophthalmol Vis Sci 48(9):3937-44. 2007
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4 | CZP1, GJA8
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| The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.
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| DeRosa AM, Xia CH, Gong X, White TW.
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| J Cell Sci 120(Pt 23):4107-16. Epub 2007 Nov 14.PMID: 18003700 2007
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5 | GJA8, CZP1
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| Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
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| Devi RR, Vijayalakshmi P.
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| Mol Vis 12:190-5. 2006
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6 | CZP1, GJA8
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| A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
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| Vanita V, Hennies HC, Singh D, Nürnberg P, Sperling K, Singh JR.
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| Mol Vis 12:1217-22.
2006
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7 | ADCC1, CRYAA, CZP1, GJA8
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| Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.
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| Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.
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| Am J Ophthalmol 129(2):159-65. 2000
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8 | CZP1, GJA8
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| Connexin 50 mutation in a family with congenital zonular nuclear pulverulent cataract of Pakistani origin.
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| Berry V, et al.
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| Hum Genet 105(1-2):168-70. 1999
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9 | CZP1, GJA8
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| A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant zonular pulverulent cataract, on chromosome 1q.
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| Shiels A, et al.
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| Am J Hum Genet 62 : 526-532. 1998
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10 | CZP1, GJA8
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| Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.
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| Geyer DD, et al.
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| Mol Vis http/www.emory.edu/molvis/v3/geyer 1997
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11 | CZP1, CCL
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| Genetic linkage analysis of autosomal dominant congenital cataracts.
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| Bateman JB, et al.
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| Am J Ophthalmol 101 : 218-225. 1986
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12 | CZP1, CCL
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| Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies.
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| Conneally PM, et al.
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| Cytogenet Cell Genet 22 : 295-297. 1978
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13 | CZP1, CCL
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| Probable linkage between a congenital cataract locus and the Duffy blood group locus.
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| Renwick JH, et al.
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| Ann Hum Genet 27 : 67-86. 1963
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