Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

@inproceedings{Min2017IdentificationO2,
  title={Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing},
  author={Xiangrong Min and Haiying Fan and Gui-qiu Zhao and Guixiang Liu},
  booktitle={Medical science monitor : international medical journal of experimental and clinical research},
  year={2017}
}
BACKGROUND The etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology. MATERIAL AND METHODS Genomic DNA was extracted from the affected individual and his parents in a Chinese pedigree with strabismus. The resulting exomes were sequenced by whole-exome sequencing. After variant calling and filtering, the candidate causative gene mutations were selected for the… CONTINUE READING

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