RNA Sequencing of Urine ‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta

In conclusion, UDC are suitable for RNA transcript analysis in patients with suspected OI and can provide functional evidence for pathogenicity, in particular of variants affecting splicing. © 2023 The Authors.Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

Source: Journal of Bone and Mineral Research - June 23, 2023 Category: Orthopaedics Authors: Karissa Ludwig, Zenghui Wu, Ghalib Bardai, Patrizia Mason, Leanne M Ward, Pierre Moffatt, Frank Rauch Tags: Research Article Source Type: research