649090.fig.002a
(a)
649090.fig.002b
(b)
649090.fig.002c
(c)
649090.fig.002d
(d)
649090.fig.002e
(e)
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.