Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

@article{Chen2011MolecularAO,
  title={Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.},
  author={Jizheng Chen and Nizar Smaoui and Monia Ben Hamed Hammer and Xiaodong Jiao and S. Amer Riazuddin and Shyana Harper and Nicholas Katsanis and Habiba B Bouhamed Chaabouni and Eliot L. Berson and J Fielding Hejtmancik},
  journal={Investigative ophthalmology & visual science},
  year={2011},
  volume={52 8},
  pages={5317-24}
}
PURPOSE Bardet-Biedl syndrome (BBS) is genetically heterogeneous with 15 BBS genes currently identified, accounting for approximately 70% of cases. The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS. METHODS A total of 142 exons of the first 12 BBS-causing genes were screened by dideoxy sequencing. Cases in which no mutations were found were then… CONTINUE READING
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Clinical and molecular characterization of Bardet - Biedl syndrome in consanguineous populations : the power of homozygosity mapping

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