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

@article{Jaijo2006MutationPO,
  title={Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.},
  author={Teresa Jaijo and Elena Aller and Silvestre Oltra and Magdalena Beneyto and Carmen N{\'a}jera and Carmen Ayuso and M. A. Argany Baiget and Miguel Carballo and Guillermo Anti{\~n}olo and D. Campos Valverde and Felipe Moreno and Concha Vilela and Herminio P{\'e}rez-Garrigues and Amparo Navea and Jose M. Mill{\'a}n},
  journal={Human mutation},
  year={2006},
  volume={27 3},
  pages={
          290-1
        }
}
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 (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation… CONTINUE READING

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