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. Author manuscript; available in PMC: 2016 Apr 12.
Published in final edited form as: Nat Genet. 2014 Aug 17;46(9):1021–1027. doi: 10.1038/ng.3069

Figure 1.

Figure 1

Identification of mutations in JAGN1. (a) Genotypes of affected (filled symbols) and unaffected individuals (open symbols) from Family A on chromosome 3p. (b) Exon/intron scheme of the JAGN1 gene locus with all mutations identified in this study. (c) JAGN1 protein expression was determined by Western blot analysis using an antibody directed against the N-terminal end of JAGN1 as outlined in Material and Methods. Px denotes patient number x in this study, PxF the respective father.