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Results: 1 to 20 of 161

1.

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.

Zhou D, Ji H, Wei Z, Guo L, Li Y, Wang T, Zhu Y, Dong X, Wang Y, He L, Xing Q, Zhang L.

Mol Vis. 2013 Apr 5;19:789-95. Print 2013.

PMID:
23592915
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Wang K, Wang B, Wang J, Zhou S, Yun B, Suo P, Cheng J, Ma X, Zhu S.

Mol Vis. 2009 Dec 16;15:2813-20.

PMID:
20019893
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

Zhang X, Wang L, Wang J, Dong B, Li Y.

Mol Vis. 2012;18:203-10. Epub 2012 Jan 25.

PMID:
22312188
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V.

Mol Vis. 2007 Sep 11;13:1657-65.

PMID:
17893674
[PubMed - indexed for MEDLINE]
Free Article
5.

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

Li J, Wang Q, Fu Q, Zhu Y, Zhai Y, Yu Y, Zhang K, Yao K.

Mol Vis. 2013 Apr 5;19:767-74. Print 2013.

PMID:
23592913
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X.

Mol Vis. 2008 Mar 4;14:418-24.

PMID:
18334966
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

Hu S, Wang B, Zhou Z, Zhou G, Wang J, Ma X, Qi Y.

Mol Vis. 2010 Aug 11;16:1585-92.

PMID:
20806042
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].

Lin Y, Liu NN, Lei CT, Fan YC, Liu XQ, Yang Y, Wang JF, Liu B, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):59-62. Chinese.

PMID:
18247306
[PubMed - indexed for MEDLINE]
9.

A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yang G, Xing B, Liu G, Lu X, Jia X, Lu X, Wang X, Yu H, Fu Y, Zhao J.

Mol Vis. 2011 Apr 27;17:1070-3.

PMID:
21552498
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.

Ding X, Wang B, Luo Y, Hu S, Zhou G, Zhou Z, Wang J, Ma X, Qi Y.

Mol Vis. 2011;17:1343-9. Epub 2011 May 20.

PMID:
21647269
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.

Zhang L, Qu X, Su S, Guan L, Liu P.

Mol Vis. 2012;18:2114-8. Epub 2012 Jul 26.

PMID:
22876138
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Chen Q, Ma J, Yan M, Mothobi ME, Liu Y, Zheng F.

Mol Vis. 2009 Jul 10;15:1359-65.

PMID:
19597569
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

Guo Y, Yuan L, Yi J, Xiao J, Xu H, Lv H, Xiong W, Zheng W, Guan L, Zhang J, Xiang H, Qi Y, Deng H.

Indian J Biochem Biophys. 2013 Aug;50(4):253-8.

PMID:
24772942
[PubMed - indexed for MEDLINE]
14.

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Zhou Z, Hu S, Wang B, Zhou N, Zhou S, Ma X, Qi Y.

Mol Vis. 2010 Apr 21;16:713-9.

PMID:
20431721
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Vanita V, Hennies HC, Singh D, N├╝rnberg P, Sperling K, Singh JR.

Mol Vis. 2006 Oct 18;12:1217-22.

PMID:
17110920
[PubMed - indexed for MEDLINE]
Free Article
16.

A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Gao X, Cheng J, Lu C, Li X, Li F, Liu C, Zhang M, Zhu S, Ma X.

Curr Eye Res. 2010 Jul;35(7):597-604. doi: 10.3109/02713681003725831.

PMID:
20597646
[PubMed - indexed for MEDLINE]
17.

Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.

Wang L, Luo Y, Wen W, Zhang S, Lu Y.

Mol Vis. 2011;17:2380-5. Epub 2011 Sep 1.

PMID:
21921990
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yao K, Jin C, Zhu N, Wang W, Wu R, Jiang J, Shentu X.

Mol Vis. 2008 Jul 9;14:1272-6.

PMID:
18618005
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.

Wang KJ, Zhu SQ.

Mol Vis. 2012;18:968-73. Epub 2012 Apr 18.

PMID:
22550389
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Guleria K, Vanita V, Singh D, Singh JR.

Mol Vis. 2007 Jun 4;13:797-803.

PMID:
17615540
[PubMed - indexed for MEDLINE]
Free PMC Article

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