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Michael Volodarsky, Barak Markus, Idan Cohen, Orna Staretz-Chacham, Hagit Flusser, Daniella Landau, Ilan Shelef, Yshaia Langer and Ohad S. Birk A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta Human Mutation 34

Article first published online: 20 MAR 2013 | DOI: 10.1002/humu.22274

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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.

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