ba0004op1 | (1) | ICCBH2015
Webb Emma
, Balasubramanian Meena
, Cole Trevor
, Stewart Sue
, Crabtree Nicola
, Vogt Julie
, Roschger Paul
, Fratzl-Zelman Nadja
, Klaushofer Klaus
, Hogler Wolfgang
Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...