Article
Phenotypic effects of Ehlers-Danlos syndrome-associated mutation on the FnIII domain of tenascin-X.
Protein science : a publication of the Protein Society - 2 Oct 2010
Zhuang Shulin, Linhananta Apichart, Li Hongbin
Abstract excerpt
Tenascin-X (TNX) is an extracellular matrix (ECM) protein and interacts with a wide variety of molecules in the ECM as well as on the membrane. Deficiency of TNX causes a recessive form of Ehlers-Danlos syndrome (EDS) characterized by hyperelastic and fragile skin, easy bruising, and hypermobile joints. Three point mutations in TNX gene were found to be associated with hypermobility type EDS and one of such...
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