| 1 | CCA2, CRYBB2
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| Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
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| Yao K, Li J, Jin C, Wang W, Zhu Y, Shentu X, Wang Q.
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| Mol Vis. 17:144-52. 2011
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| 2 | CCA2, CRYBB1
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| A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
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| Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.
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| Mol Vis 14:727-31.PMID: 18432316 2008
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| 3 | CRYBB1, CCA2
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| CRYBB1 mutation associated with congenital cataract and microcornea.
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| Willoughby CE, Shafiq A, Ferrini W, Chan LL, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Heon E.
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| Mol Vis 11:587-93. 2005
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| 4 | CRYBB2, CCA2
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| Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
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| Santhiya ST, Manisastry SM, Rawlley D, Malathi R, Anishetty S, Gopinath PM, Vijayalakshmi P, Namperumalsamy P, Adamski J, Graw J.
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| Invest Ophthalmol Vis Sci 45(10):3599-607. 2004
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| 5 | CCA2, CRYBB1
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| A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q.
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| Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A.
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| Am J Hum Genet 71(5):1216-21. 2002
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| 6 | CCA2, CRYBB2, CRYBB2P1
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| A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
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| Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Burger J.
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| J Med Genet 38(6):392-6. No abstract available. 2001
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| 7 | CCA2, CCL, CRYBB2
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| Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
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| Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E.
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| Invest Ophthalmol Vis Sci 41(1):159-65. 2000
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| 8 | CCA2, CRYBB2
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| Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
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| Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH.
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| Hum Mol Genet 6(5):665-8. 1997
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| 9 | CCA2, CRYBB2
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| A second gene for cerulean cataracts maps to the beta-crystallin region on chromosome 22.
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| Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M.
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| Am J Hum Genet 35 : 539-542. 1996
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| 10 | CCA2
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| Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts.
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| Bodker FS, et al.
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| Am J Med Genet 37 : 54-59. 1990
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