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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert1, Wayne A Cabral2, Surasawadee Ausavarat3,4

  • 1Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital Zurich, Zurich 8032, Switzerland.

Nature Communications
|July 7, 2016
PubMed

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