Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

@article{Baek2011PathogenicEO,
  title={Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.},
  author={Jeong-In Baek and Hong-Joon Park and Kyungjoon Park and Su-jin Choi and Kyu-yup Lee and Jee Hyun Yi and Thomas B Friedman and Dennis Drayna and Ki Soon Shin and Un-Kyung Kim},
  journal={Biochimica et biophysica acta},
  year={2011},
  volume={1812 4},
  pages={
          536-43
        }
}
Hearing loss is a common communication disorder caused by various environmental and genetic factors. Hereditary hearing loss is very heterogeneous, and most of such cases involve sensorineural defects in the auditory pathway. There are currently 57 known autosomal dominant non-syndromic hearing loss (DFNA) loci, and the causative genes have been identified at 22 of these loci. In the present study, we performed a genome-wide linkage analysis in a Korean family segregating autosomal dominant… CONTINUE READING

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