Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica Ellen Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Elias Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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