Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current stu...

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Main Authors: Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z. Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J.
格式: Artigo
語言:Inglês
出版: 1996
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914835/
https://ncbi.nlm.nih.gov/pubmed/8900236
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