A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Figure 2
(a) Sequence analysis of ichthyosis patients: reverse sequence data showing a homozygous mutation present in the proband from family 1; the parents were both heterozygous carriers of this change. (b) Sequence analysis of ichthyosis patients: the sequence data for family 2 shows the heterozygous genotype of one of the parents. (c) Sequence analysis of ichthyosis patients: the mutation was not identified in any of the ethnically matched controls; all were found to be wildtype at this position.
