Sunderland Repository records the research produced by the University of Sunderland including practice-based research and theses.
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Germain, Dominique P., Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C., Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephen, Wanner, Christoph and Jovanovic, Ana (2018) Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Molecular Genetics & Genomic Medicine, 6 (4). pp. 492-503. ISSN 2324-9269