Articles with "sec16b alters" as a keyword



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Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

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Published in 2023 at "EMBO Molecular Medicine"

DOI: 10.15252/emmm.202216834

Abstract: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing.… read more here.

Keywords: collagen trafficking; allelic mutation; sec16b alters; mutation sec16b ... See more keywords