A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

@article{Riazuddin2005ANL,
  title={A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.},
  author={Saima Riazuddin and Afshan Yasmeen and Qingjiong Zhang and Wenliang Yao and Muhammad Farooq Sabar and Zahoor Ahmed and S. Amer Riazuddin and J Fielding Hejtmancik},
  journal={Investigative ophthalmology & visual science},
  year={2005},
  volume={46 2},
  pages={623-6}
}
PURPOSE To identify the disease locus of autosomal recessive congenital nuclear cataracts in a consanguineous Pakistani family. METHODS A large Pakistani family with multiple individuals affected by autosomal recessive congenital cataracts was ascertained. Patients were examined, blood samples were collected, and DNA was isolated. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two-point lod scores were… CONTINUE READING

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