Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

@inproceedings{Stabej2012ComprehensiveSA,
  title={Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study},
  author={Polona Le Quesne Stabej and Zubin Saihan and Nell Rangesh and Heather B Steele-Stallard and John Ambrose and Alison J. Coffey and Jenny Emmerson and Elene Haralambous and Yasmin Hughes and Karen P. Steel and Linda M. Luxon and Andrew R. Webster and Maria A. K. Bitner-Glindzicz},
  booktitle={Journal of medical genetics},
  year={2012}
}
BACKGROUND Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. METHODS The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN… CONTINUE READING
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