Mutation analysis of γ-crystallin genes

Mutation analysis of γ-crystallin genes

Family CCW-33 shows an R168W mutation in . Family CCW-45 shows an R140X mutation in . Family CCW47 shows a S39C mutation in . : RFLP analysis of exon 1 shows the loss of HpyF10VI site (mutant allele-274 bp and 204 bp, wild-type allele-478 bp). : Individual V:3 of family CCW47 shows sutural cataract....

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Bibliographische Detailangaben
Hauptverfasser: Ramachandran Ramya Devi, Wenliang Yao, Perumalsamy Vijayalakshmi, Sergeev, Yuri V., Periasamy Sundaresan, J. Fielding Hejtmancik
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Sprache:eng
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FOS: Biological sciences
Genetics
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Zusammenfassung:Family CCW-33 shows an R168W mutation in . Family CCW-45 shows an R140X mutation in . Family CCW47 shows a S39C mutation in . : RFLP analysis of exon 1 shows the loss of HpyF10VI site (mutant allele-274 bp and 204 bp, wild-type allele-478 bp). : Individual V:3 of family CCW47 shows sutural cataract. : Individual II:1 of family CCW33 shows lamellar cataract. M denotes 100 bp DNA ladder, and C denotes unrelated control.Copyright information:Taken from "Crystallin gene mutations in Indian families with inherited pediatric cataract"Molecular Vision 2008;14():1157-1170.Published online 16 Jun 2008PMCID:PMC2435160.
DOI:10.6084/m9.figshare.27055