A nonsense mutation (R220X) in the α-galactosidase a gene detected in a female carrier of fabry disease

Meaney, C., Blanch, L. C., & Morris, C. P. (1994, June). A nonsense mutation (R220X) in the α-galactosidase a gene detected in a female carrier of fabry disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/3.6.1019