Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.

@article{Kondo2011MutationsIT,
  title={Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.},
  author={Hiroyuki Kondo and Shunji Kusaka and Aki Yoshinaga and Eiichi Uchio and Akihiko Tawara and Kenshi Hayashi and Tomoko Tahira},
  journal={American journal of ophthalmology},
  year={2011},
  volume={151 6},
  pages={1095-1100.e1}
}
PURPOSE To search for mutations in the TSPAN12 gene in 90 Japanese probands with familial exudative vitreoretinopathy (FEVR) and their family members and to determine the types and frequencies of the mutations. DESIGN Laboratory investigation and clinical case analyses. METHODS Direct sequencing after polymerase chain reaction of the coding exons of TSPAN12 was performed for 90 probands with FEVR and some of their family members. The clinical signs and symptoms that were characteristic of… CONTINUE READING
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