Authors: Ashley, GA Shabbeer, J Yasuda, M Eng, CM Desnick, RJ

Citation: Ga. Ashley et al., Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype, J HUM GENET, 46(4), 2001, pp. 192-196

Authors: Topaloglu, AK Ashley, GA Tong, BZ Shabbeer, J Astrin, KH Eng, CM Desnick, RJ

Citation: Ak. Topaloglu et al., Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease, MOL MED, 5(12), 1999, pp. 806-811

Authors: Ashton-Prolla, P Ashley, GA Giugliani, R Pires, RF Desnick, RJ Eng, CM

Citation: P. Ashton-prolla et al., Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG), AM J MED G, 84(5), 1999, pp. 420-424