Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family
Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense,...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415561/ |