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Deficient matrix incorporation of K57 fibulin-4. Immunoblot analysis of fibulin-4 expression in fibroblasts from the patient (E57K) and three healthy controls (Wt 1–Wt 3). Cell lysates (Cell) show approximately equal expression of fibulin-4 in the patient and controls. However, EDTA extract of the extracellular matrix (ECM) shows no fibulin-4 in the patient sample.
