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Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa

Sasaki, Takako ; Hanisch, Franz-Georg ; Deutzmann, Rainer ; Sakai, Lynn Y. ; Sakuma, Tetsushi ; Miyamoto, Tatsuo ; Yamamoto, Takashi ; Hannappel, Ewald ; Chu, Mon-Li ; Lanig, Harald ; von der Mark, Klaus


Fibulin-4 is a 60 kDa calcium binding glycoprotein that has an important role in development and integrity of extracellular matrices. It interacts with elastin, fibrillin-1 and collagen IV as well as with lysyl oxidases and is involved in elastogenesis and cross-link formation. To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular ...


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