6 research outputs found
Pedigree of the family with autosomal dominant congenital progressive punctate cataracts.
<p>A three-generation pedigree with 16 members is shown. Squares and circles indicate males and females, respectively. Shaded shapes indicate affected individuals. The arrow indicates the proband.</p
Haplotype of the family.
<p>Eight markers close to <i>MIP</i> were used. The disease haplotype (represented by the black bar) cosegregated with all affected family members from marker D12S1622 to D12S83 but was not shared with unaffected members.</p
Slit-lamp photograph of the proband.
<p>Slit-lamp examination of the proband showed a cataract characterized as a punctate cataract.</p
The protein levels of WT-MIP and G215D-MIP.
<p>Western blot analysis indicating that the mutation did not result in the expression or instability of the protein.</p