Analysis of mutations in the FOXI 1 and KCNJ 10 genes in infants with a single-allele SLC 26 A 4 mutation

@inproceedings{Zhao2019AnalysisOM,
  title={Analysis of mutations in the FOXI 1 and KCNJ 10 genes in infants with a single-allele SLC 26 A 4 mutation},
  author={Xuelei Zhao and Xiaohua Cheng and Lihui Huang and Xianlei Wang and Cheng Wen and Xueyao Wang and Liping Zhao},
  year={2019}
}
SLC26A4 gene mutations are associated with deafness. In China, the rate of mutation in the SLC26A4 gene in patients with an enlarged vestibular aqueduct (EVA) is approximately 97%. The most common variant is c.9192A>G (1). According to Chinese studies, 11.6-38% of patients with EVA were unable to be identified based on pathogenic factors. Of those, 7.4-24% had an SLC26A4 mono-allelic mutation (2-4). Foreign studies found that among patients with EVA the rate of SLC26A4 bi-allelic and mono… CONTINUE READING

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