MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Nature Communications
Lindert, Uschi U; Cabral, Wayne A WA; Ausavarat, Surasawadee S; Tongkobpetch, Siraprapa S; Ludin, Katja K; Barnes, Aileen M AM; Yeetong, Patra P; Weis, Maryann M; Krabichler, Birgit B; Srichomthong, Chalurmpon C; Makareeva, Elena N EN; Janecke, Andreas R AR; Leikin, Sergey S; Röthlisberger, Benno B; Rohrbach, Marianne M; Kennerknecht, Ingo I; Eyre, David R DR; Suphapeetiporn, Kanya K; Giunta, Cecilia C; Marini, Joan C JC; Shotelersuk, Vorasuk V