Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

Figure 1

Molecular and microscopic characterization of RDEB patients that are homozygotes for c.6527insC in exon 80. (A) Identification of the c.6527insC mutation by direct DNA sequence analysis. The chromatogram shows the pattern of 7 C peaks typically found in these patients (left) when compared with healthy controls (right). (B) Indirect immunofluorescent staining with LH7.2 monoclonal antibody (NC-1 domain of type VII collagen). The control section shows a continuous staining along the intact dermal-epidermal junction (right), while the section from the patient is negative to the staining and show a dermal-epidermal cleavage (*).

Back to article page