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doi.org/10.1016/S0009-8981(98)00133-8, hdl.handle.net/1765/72457
Clinica Chimica Acta
Department of Clinical Genetics

Beyer, E., Karpova, E., Udalova, O., Ploos Van Amstel, J., van Diggelen, O., & Tsvetkova, I. (1999). The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the α-galactosidase A. In Clinica Chimica Acta (Vol. 280, pp. 81–89). doi:10.1016/S0009-8981(98)00133-8