Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes
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| Description | scientific article |
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author: Didier Lacombe Jean-Louis Mandel Bernard Jost Alain Verloes Claire Redin Corinne Stoetzel Hélène Dollfus Jean Muller Florence Petit Véronique Geoffroy |
| Publication date | July 7, 2012 |
| Language | English |
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