Figure 1.

Novel ALMS1 mutations identified in this report and total previously reported. A. Exonic structure and location of novel ALMS1 mutations. B. Total number of reported substitution, deletion, insertion, and splice-site mutations per exon, including novel mutations and those previously reported in Supp. Table S1. Intronic regions where mutations of unknown significance, but predicted to alter splicing have been identified are shaded in dark gray.