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. Author manuscript; available in PMC: 2012 Jun 1.
Published in final edited form as: Hum Mutat. 2011 Apr 7;32(6):598–609. doi: 10.1002/humu.21475

Figure 5.

Figure 5

Fibrils with a cleavage site mutation have irregular cross-sections and normal or decreased diameter. Dermal collagen fibrils from skin punch biopsies were examined by transmission electron microscopy. The fibril diameter was measured (n = 200) and compared with an age-appropriate control. Both Patient 1 and Patient 2 have irregular cross-sections with some blebs, while Patient 1 fibrils were normal in diameter and Patient 2 fibrils were decreased in size. Longitudinal cross-sections were normal with no appearance of branching or barbs.