Six novel mutations in the α-galactosidase A gene in families with Fabry disease

Journal Article Six novel mutations in the α-galactosidase A gene in families with Fabry disease Get access J.K. Ploos van Amstel, J.K. Ploos van Amstel * *To whom correspondence should be address Search for other works by this author on: Oxford Academic PubMed Google Scholar R.P. M. Jansen, R.P. M. Jansen Search for other works by this author on: Oxford Academic PubMed Google Scholar J.G.N. de Jong, J.G.N. de Jong 1Laboratory for Neurology and Pediatrics, Institute NeurologyNijmegen, The Netherlands Search for other works by this author on: Oxford Academic PubMed Google Scholar B.C.J. Hamel, B.C.J. Hamel 2Department of Human Genetics, University Hospital NijmegenThe Netherlands Search for other works by this author on: Oxford Academic PubMed Google Scholar R.A. Wevers R.A. Wevers 1Laboratory for Neurology and Pediatrics, Institute NeurologyNijmegen, The Netherlands Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 3, March 1994, Pages 503–505, https://doi.org/10.1093/hmg/3.3.503 Published: 01 March 1994 Article history Received: 12 November 1993 Revision received: 05 January 1994 Accepted: 05 January 1994 Published: 01 March 1994