Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B...

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Veröffentlicht in:Human mutation 2006-03, Vol.27 (3), p.290-291
Hauptverfasser: Jaijo, T., Aller, E., Oltra, S., Beneyto, M., Nájera, C., Ayuso, C., Baiget, M., Carballo, M., Antiñolo, G., Valverde, D., Moreno, F., Vilela, C., Perez-Garrigues, H., Navea, A., Millán, J.M.
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