Title: Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
Abstract: Human MutationVolume 11, Issue S1 p. S240-S241 Mutation in BriefFree Access Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree Stephan Claes, Stephan Claes Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorTania Aguirre, Tania Aguirre Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorVenancio Simosa, Venancio Simosa Centro National de Genética, Facultad de Medicina, Universidad Central de Venezuela, Caracas, VenezuelaSearch for more papers by this authorTania Bustos, Tania Bustos Centro National de Genética, Facultad de Medicina, Universidad Central de Venezuela, Caracas, VenezuelaSearch for more papers by this authorRafael Lander, Rafael Lander Servicio de Neurología, Centro Médico Docente La Trinidad, Caracas, VenezuelaSearch for more papers by this authorMarta Piras, Marta Piras Unidad de Pruebas Especiales, Centro Médico Docente La Trinidad, Caracas, VenezuelaSearch for more papers by this authorEric Legius, Eric Legius Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorJean-Jacques Cassiman, Corresponding Author Jean-Jacques Cassiman Center for Human Genetics, University of Leuven, BelgiumCenter for Human Genetics, U.Z. Gasthuisberg, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium; Fax: +32-16-345997Search for more papers by this authorPeter Raeymaekers, Peter Raeymaekers Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this author Stephan Claes, Stephan Claes Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorTania Aguirre, Tania Aguirre Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorVenancio Simosa, Venancio Simosa Centro National de Genética, Facultad de Medicina, Universidad Central de Venezuela, Caracas, VenezuelaSearch for more papers by this authorTania Bustos, Tania Bustos Centro National de Genética, Facultad de Medicina, Universidad Central de Venezuela, Caracas, VenezuelaSearch for more papers by this authorRafael Lander, Rafael Lander Servicio de Neurología, Centro Médico Docente La Trinidad, Caracas, VenezuelaSearch for more papers by this authorMarta Piras, Marta Piras Unidad de Pruebas Especiales, Centro Médico Docente La Trinidad, Caracas, VenezuelaSearch for more papers by this authorEric Legius, Eric Legius Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this authorJean-Jacques Cassiman, Corresponding Author Jean-Jacques Cassiman Center for Human Genetics, University of Leuven, BelgiumCenter for Human Genetics, U.Z. Gasthuisberg, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium; Fax: +32-16-345997Search for more papers by this authorPeter Raeymaekers, Peter Raeymaekers Center for Human Genetics, University of Leuven, BelgiumSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110177Citations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. 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Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S240-S241 ReferencesRelatedInformation