Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

@article{Bernal2003MutationsIU,
  title={Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.},
  author={Sara M Bernal and Carmen Ayuso and Guillermo Anti{\~n}olo and Ascensi{\'o}n Gim{\'e}nez and Salud Borrego and Mar{\'i}a Jos{\'e} Trujillo and I. Rojas Marcos and M{\'o}nica Calaf and E Reyes Espinosa del Rio and Montserrat Baiget},
  journal={Journal of medical genetics},
  year={2003},
  volume={40 1},
  pages={e8}
}
Retinitis pigmentosa (RP), which occurs in about one in 3000-7000 people in Spain, is inherited in an autosomal dominant manner in 12% of cases, in an autosomal recessive way in 39%, and in an X linked manner in 4% of cases. This leaves 41% of RP cases with a simplex form and 4% in which the transmission pattern is unclear. Direct analyses of rhodopsin, the alpha and gamma subunits of rod cGMP-phosphodiesterase, periferin/RDS, rod outer segment membrane protein, recoverin, guanilate cyclase… CONTINUE READING
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