Identification of a <i>de novo</i> insertional mutation in P_o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

Abstract

Journal Article Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype Get access Bernd Rautenstrauβ, Bernd Rautenstrauβ Institute for Human Genetics, University of ErlangenD-91054 Erlangen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Eva Nelis, Eva Nelis 2Neurogenetics Laboratory, Born Bunge Foundation, University of Antwerp (UIA), Department of BiochemistryUniversiteitsplein 1, B-2610 Antwerpen, Belgium Search for other works by this author on: Oxford Academic PubMed Google Scholar Holger Grehl, Holger Grehl 1Department of Neurology, University of ErlangenD-91054 Erlangen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Rudolf A. Pfeiffer, Rudolf A. Pfeiffer Institute for Human Genetics, University of ErlangenD-91054 Erlangen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Christine Van Broeckhoven Christine Van Broeckhoven * 2Neurogenetics Laboratory, Born Bunge Foundation, University of Antwerp (UIA), Department of BiochemistryUniversiteitsplein 1, B-2610 Antwerpen, Belgium *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 9, September 1994, Pages 1701–1702, https://doi.org/10.1093/hmg/3.9.1701 Published: 01 September 1994 Article history Received: 01 July 1994 Accepted: 14 July 1994 Published: 01 September 1994