A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.

@article{Meaney1994ANM,
  title={A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.},
  author={Clare Meaney and Lianne Blanch and C Phillip Morris},
  journal={Human molecular genetics},
  year={1994},
  volume={3 6},
  pages={1019-20}
}