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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
- Correspondence to Professor Jean-Louis Mandel, Department of Neurogenetics & Translational medicine, IGBMC, 1 rue Laurent Fries, Illkirch cedex 67404, France; jlmandel{at}igbmc.fr
Citation
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
July 30, 2016
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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/3.0/ and http://creativecommons.org/licenses/by-nc/3.0/legalcode