Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
© 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both...
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| Main Authors: | , , , , , |
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| Format: | Journal |
| Published: |
2017
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| Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85014340978&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/40661 |
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| Institution: | Chiang Mai University |