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Original article
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Authors

  1. Correspondence to Professor Jean-Louis Mandel, Department of Neurogenetics & Translational medicine, IGBMC, 1 rue Laurent Fries, Illkirch cedex 67404, France; jlmandel{at}igbmc.fr
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Citation

Redin C, Le Gras S, Mhamdi O, et al
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Publication history

  • Received March 7, 2012
  • Revised May 15, 2012
  • Accepted May 28, 2012
  • First published July 7, 2012.
Online issue publication 
August 12, 2012

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