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2004 2
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A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Zhang LY, Gong B, Tong JP, Fan DS, Chiang SW, Lou D, Lam DS, Yam GH, Pang CP. Zhang LY, et al. Mol Vis. 2009 Aug 6;15:1521-9. Mol Vis. 2009. PMID: 19668596 Free PMC article.
R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosphorylation site could lead to protein aggregation, subsequently causing opacification in lens....
R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosp …
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
Zhang X, Wang L, Wang J, Dong B, Li Y. Zhang X, et al. Mol Vis. 2012;18:203-10. Epub 2012 Jan 25. Mol Vis. 2012. PMID: 22312188 Free PMC article.
Bioinformatics analysis was undergone by the Garnier-Osguthorpe-Robson (GOR) and the PolyPhen (polymorphism phenotyping) programs to predict the effect of variants detected on secondary structure and protein function of the GJA3 protein. ...This novel missense mutation co- …
Bioinformatics analysis was undergone by the Garnier-Osguthorpe-Robson (GOR) and the PolyPhen (polymorphism phenotyping) programs to pred
Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene.
Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ. Xu WZ, et al. Chin Med J (Engl). 2004 May;117(5):727-32. Chin Med J (Engl). 2004. PMID: 15161542
Mutation analysis of candidate genes was performed by direct sequencing. Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2.0). RESULTS: Eleven of the 23 examined individuals had congenital cataracts. ...
Mutation analysis of candidate genes was performed by direct sequencing. Finally, a three-dimensional protein model was predicted usi …
A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.
Mackay DS, Andley UP, Shiels A. Mackay DS, et al. Mol Vis. 2004 Mar 17;10:155-62. Mol Vis. 2004. PMID: 15041957 Free article.
Sequencing of the CRYGA-CRYGD cluster identified a C->A transversion in exon 2 of CRYGD that was predicted to result in the non-conservative substitution of threonine for proline at amino-acid residue 23 (P23T) in the processed CRYGD protein. ...
Sequencing of the CRYGA-CRYGD cluster identified a C->A transversion in exon 2 of CRYGD that was predicted to result in the non-co …