[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].

@article{Jin2004IdentificationOB,
  title={[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].},
  author={Tao Jin and Liu-he Zou and Ling Yang and Wei-li Dong and Jie Yu and Lan Lu},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2004},
  volume={21 1},
  pages={32-4}
}
OBJECTIVE To identify the mutations of BIGH3 gene in Chinese patients with corneal dystrophies. METHODS Polymerase chain reaction in exon 4, exon 12 and direct DNA sequencing of BIGH3 gene were performed in fifteen patients with corneal dystrophies and ten normal individuals as controls. RESULTS Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. Twelve patients with Avellino corneal dystrophy had the… CONTINUE READING

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