A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.

@article{Fan2015ANF,
  title={A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.},
  author={Ning Fan and Jost Bruno Jonas and Fang He and N H Yan and Yun Wang and Lei Liu and D L Liu and Ludong Zhao and I-H Pang and X Y Liu},
  journal={Genetics and molecular research : GMR},
  year={2015},
  volume={14 4},
  pages={15295-300}
}
Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals… CONTINUE READING