A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
© 2017, Sociedade Brasileira de Genética. Printed in Brazil. Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy...
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| Main Authors: | , , , , , |
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| Format: | Journal |
| Published: |
2018
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| Subjects: | |
| Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85035804538&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/43628 |
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| Institution: | Chiang Mai University |