A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta. Issue 4 (20th March 2013) - Volodarsky, Michael
Abstract We demonstrate through homozygosity mapping and whole exome seuquencing that autosomal recessive osteogensis imperfecta (OI) type IV is associated with a homozygous deletion mutation of exon 4 of TMEM38B. TMEM38B encodes TRIC‐B, a ubiquitous component of TRIC, a monovalent cation‐specific channel involved in Ca2+ release from intracellular stores that has been shown to act in cell differentiation.