A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Figure 3

ABCA12 gene showing the locations of some mutations already identified and location of novel missense change. The exons in the gene are shown in purple. Missense changes can be found above the gene, while deletions can be found underneath the gene. The novel missense change identified in the two families is marked in red at exon 32.