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. 2015 Mar 5;96(3):440–447. doi: 10.1016/j.ajhg.2014.12.026

Figure 2.

Figure 2

Homozygous Mutations in CAST and Its Expression and Localization in the Skin

(A) Sequence chromatograms showing homozygous mutations c.607dup, c.424A>T, and c.1750delG in the affected individuals. Arrows indicate the position of the mutation.

(B) Homozygous frameshift mutation c.607dup-mediated mRNA decay of calpastatin in individual 1 is demonstrated by qRT-PCR compared to the normal control. The error bar represents the SEM.

(C) Immunohistochemistry shows absent calpastatin staining in individual 1 (right) compared to normal staining throughout the epidermis in the control (left). The scale bars represent 50 μm.