Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

@article{Bateman2007GeneCM,
  title={Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.},
  author={Jas. Bateman and Fernando R Barria von-Bischhoffshaunsen and Leslie Richter and Pamela Flodman and Douglas Burch and M. Anne Spence},
  journal={Ophthalmology},
  year={2007},
  volume={114 3},
  pages={
          425-32
        }
}
PURPOSE To map and identify the mutated gene for autosomal dominant cataract (ADC) in a large Chilean family (ADC53). DESIGN Experimental study. PARTICIPANTS Large Chilean family with ADCs. METHODS Linkage analyses using genome-wide polymorphic DNA markers were performed on a family with variable expression of cataracts to map the mutated gene to a chromosome; 2-point lod scores were calculated. Candidate genes in the region of the maximum lod score were sequenced. We compared haplotypes… CONTINUE READING
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