Abstract
Patients with Usher syndrome (USH) suffer from inherited deafness coupled with blindness (Usher, 1914). Three types of USH have been described, with USH1 being the most severe. Children with USH1 are born profoundly deaf, and then begin to lose their sight as a result of retinitis pigmentosa usually in their second decade of life. Mutations in at least seven different genes can cause USHI. Four of these have now been identified. The most common form of USH1 is USH1B, which accounts for at least 50% of USH1 cases (Astuto et al., 2000). USH1B is caused by mutations in human myosin VIIa(MYO7A)(Weil et al., 1995
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Lillo, C., Kitamoto, J., Liu, X., Quint, E., Steel, K.P., Williams, D.S. (2003). Mouse Models for Usher Syndrome 1b. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_18
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DOI: https://doi.org/10.1007/978-1-4615-0067-4_18
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