Article
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation.
Biophysical journal - 15 Nov 2006
Han Xue, Mihailescu Mihaela, Hristova Kalina
Abstract excerpt
Achondroplasia, the most common form of human dwarfism, is due to a G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) in >97% of the studied cases. While the molecular mechanism of pathology induction is under debate, the structural consequences of the muta...
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