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A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Liu Q, Wang KJ, Zhu SQ. Liu Q, et al. Curr Eye Res. 2014 Oct;39(10):1013-9. doi: 10.3109/02713683.2014.891749. Epub 2014 Mar 21. Curr Eye Res. 2014. PMID: 24654948
The effects of amino acid changes on the structure and function of proteins were predicted by bioinformatics analysis. RESULTS: All affected individuals presented pulverulent opacities in the embryonal nucleus and sutures. ...
The effects of amino acid changes on the structure and function of proteins were predicted by bioinformatics analysis. RESULTS: All a …
Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.
Zhang L, Gao L, Li Z, Qin W, Gao W, Cui X, Feng G, Fu S, He L, Liu P. Zhang L, et al. Mol Vis. 2006 Dec 20;12:1626-31. Mol Vis. 2006. PMID: 17200662 Free article.
Sequencing results revealed a 3-bp deletion of nucleotides 696-698 (GAA) in exon 3 of BFSP2, which is predicted to cause an in-frame deletion of glutamic acid residue 233 from the polypeptide encoded by the mutant gene. ...
Sequencing results revealed a 3-bp deletion of nucleotides 696-698 (GAA) in exon 3 of BFSP2, which is predicted to cause an in-frame …