Fabry disease: twenty-two novel mutations in the α-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. - Ashton-Prolla,P.; Tong,B.; Shabbeer,J.; Astrin,K.H.; Eng,C.M.; Desnick,R.J. (J Investig Med, 2000)