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Fig. 1. From: Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Sequence chromatograms of 18 different novel mutations identified in individuals with BBS. Gene name, patient identifier, nucleotide change, and inferred amino acid alteration are given above sequence traces. The mutation position is indicated with an arrow. Wild type sequence chromatograms are shown below mutated sequences. Reading frames are underlined

Sabine Janssen, et al. Hum Genet. ;129(1):79-90.

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