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A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this f...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5352948/ https://ncbi.nlm.nih.gov/pubmed/28326186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.7 |
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