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

Lindert, Uschi ; Cabral, Wayne A ; Ausavarat, Surasawadee ; Tongkobpetch, Siraprapa ; Ludin, Katja ; Barnes, Aileen M ; Yeetong, Patra ; Weis, Maryann ; Krabichler, Birgit ; Srichomthong, Chalurmpon ; Makareeva, Elena N ; Janecke, Andreas R ; Leikin, Sergey ; Röthlisberger, Benno ; Rohrbach, Marianne ; Kennerknecht, Ingo ; Eyre, David R ; Suphapeetiporn, Kanya ; Giunta, Cecilia ; Marini, Joan C ; Shotelersuk, Vorasuk

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920 [Revista revisada por pares]

England: Nature Publishing Group

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