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Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated

Kenichi Yamamoto1,2, Hirofumi Nakayama2,3, Yusaku Ito2

  • 1Laboratory of Children's health and Genetics, Division of Health Sciences, The University of Osaka Graduate School of Medicine, Yamadaoka 1-7, Suita, 565-0871, Japan.

Bone Reports
|February 9, 2026
PubMed

Keywords:
COL1A1DeletionMicrohomologyOsteogenesis ImperfectaWhole genome analysis

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