Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

@article{Lvy1997MyosinVG,
  title={Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.},
  author={Gallia L{\'e}vy and Fabienne L{\'e}vi-Acobas and St{\'e}phane Blanchard and Sylvie Gerber and Dominique Larget-Piet and V Chenal and Xuezhong Liu and Valerie Newton and Karen P. Steel and Steve D. M. Brown and Arnold Munnich and Josseline Kaplan and Christine Petit and D. Weil},
  journal={Human molecular genetics},
  year={1997},
  volume={6 1},
  pages={111-6}
}
Usher syndrome is recognized as the most frequent cause of hereditary deaf-blindness. Usher syndrome type I (USH1), the most severe form of the disease, is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction, and retinitis pigmentosa of prepubertal onset. This form is genetically heterogeneous and five loci (USH1A-E) have been mapped thusfar. However, only the gene responsible for USH1 B (which accounts for approximately 75% of USH1 cases) has been… CONTINUE READING
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