Table 11.

Epidermolysis Bullosa Simplex: Gene-Specific Laboratory Considerations

GeneSpecial Consideration
DST DST comprises 107 exons w/3 major alternative spliced isoforms, incl BP230 (i.e., epithelial BPAG1, BPAG1-e).
PLEC PLEC comprises 33 exons w/12 distinct isoforms following alternative splicing. 3 isoforms (plectins 1, 1a, & 1c) are expressed w/in the epidermis.

From: Epidermolysis Bullosa Simplex

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