Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (BMP1, also known as procollagen C-e...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Journal Article |
| Published: |
John Wiley & Sons, Inc.
2014
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| Online Access: | http://hdl.handle.net/20.500.11937/68226 |