Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Abstract

Journal Article Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression Get access Paul L. Crotty, Paul L. Crotty 1Department of Laboratory Medicine and Pathology, University of MinnesotaMinneapolis, MN 55455, USA4Department of Human Genetics, University of MinnesotaMinneapolis, MN 55455, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Stephen E. Braun, Stephen E. Braun 2Department of Genetics and Cell Biology, University of MinnesotaMinneapolis, MN 55455, USA4Department of Human Genetics, University of MinnesotaMinneapolis, MN 55455, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Rose Ann Anderson, Rose Ann Anderson 3Department of Pediatrics, University of MinnesotaMinneapolis, MN 55455, USA4Department of Human Genetics, University of MinnesotaMinneapolis, MN 55455, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Chester B. Whitley Chester B. Whitley * 2Department of Genetics and Cell Biology, University of MinnesotaMinneapolis, MN 55455, USA3Department of Pediatrics, University of MinnesotaMinneapolis, MN 55455, USA4Department of Human Genetics, University of MinnesotaMinneapolis, MN 55455, USA * To whom correspondence should be addressed at: Box 446 UMHC, 420 Delaware Str SE, Minneapolis, MN 55455, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 1, Issue 9, December 1992, Pages 755–757, https://doi.org/10.1093/hmg/1.9.755 Published: 01 December 1992 Article history Received: 12 August 1992 Revision received: 27 October 1992 Accepted: 27 October 1992 Published: 01 December 1992