1. Eng CM, Niehaus DJ, Enriquez AL et al (1994) Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene. Hum Mol Genet 3(10):1795–1799
2. Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ (2000) Fabry disease: twenty-two novel mutations in the α-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Invest Med 48(4):227–235
3. Shabbeer J, Yasuda M, Luca E, Desnick RJ (2002) Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype. Mol Genet Metab 76:23–30
4. Gal A, Schäfer E, Rohard I (2006) The genetic basis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, Oxford, pp 323–330
5. Shabbeer J, Yasuda M, Benson SD, Desnick RJ (2006) Fabry disease: identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2(5):297–309