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A novel missense mutation in P4HB causes mild osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a rare heritable bone disorder characterized by low bone mineral density (BMD), recurrent bone fractures, and progressive bone deformities. P4HB encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. The purposes of the present st...
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| Gepubliceerd in: | Biosci Rep |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Portland Press Ltd.
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499448/ https://ncbi.nlm.nih.gov/pubmed/30948499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20182118 |
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