A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family

@article{Xu2014ANM,
  title={A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family},
  author={Leilei Xu and Xu-sheng Qiu and Zezhang Zhu and Long Yi and Yong Qiu},
  journal={European Spine Journal},
  year={2014},
  volume={23},
  pages={271-277}
}
To investigate the genotype of COL2A1 in a three-generation spondyloepiphyseal dysplasia congenita (SEDC) family. Five affected individuals from a Chinese SEDC family were enrolled in the study. All patients underwent thorough physical and radiographic examinations. DNA samples of the affected patients and the healthy controls were collected with the informed consent obtained from each participant. Two short tandem repeat polymorphic markers flanking COL2A1 gene region were detected to… CONTINUE READING
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