Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

  title={Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.},
  author={Devinder S Gill and Ralph Klose and Francis L. Munier and Mike McFadden and Megan Priston and Gail D. Billingsley and Nicolas Ducrey and Daniel F Schorderet and Elise Heon},
  journal={Investigative ophthalmology & visual science},
  volume={41 1},
PURPOSE To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss family, which defect was unlinked to the chromosome 2q33-35 CCL locus. METHODS A large family was characterized for linkage analysis by slit lamp examination or by the review of drawings made before cataract extraction. The affection status was attributed before genotyping, and the genotyping was masked to the affection status. Two-point and multipoint linkage analyses were performed using the MLINK… CONTINUE READING


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