Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

@article{Pelcastre2010NovelAR,
  title={Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.},
  author={Erika L Pelcastre and Cristina Villanueva-Mendoza and Juan Carlos Zenteno},
  journal={Clinical & experimental ophthalmology},
  year={2010},
  volume={38 4},
  pages={367-74}
}
PURPOSE To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR). METHODS Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination. Molecular methods included DNA isolation from peripheral blood leucocytes, polymerase chain reaction amplification and direct nucleotide sequencing analysis of… CONTINUE READING