Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7725
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dc.contributor.authorKalscheuer, V.en
dc.contributor.authorFreude, K.en
dc.contributor.authorMusante, L.en
dc.contributor.authorJensen, L.en
dc.contributor.authorYntema, H.en
dc.contributor.authorGecz, J.en
dc.contributor.authorSefiani, A.en
dc.contributor.authorHoffmann, K.en
dc.contributor.authorMoser, B.en
dc.contributor.authorHaas, S.en
dc.contributor.authorGurok, U.en
dc.contributor.authorHaesler, S.en
dc.contributor.authorAranda, B.en
dc.contributor.authorNshedjan, A.en
dc.contributor.authorTzschach, A.en
dc.contributor.authorHartmann, N.en
dc.contributor.authorRoloff, T.en
dc.contributor.authorShoichet, S.en
dc.contributor.authorHagens, O.en
dc.contributor.authorTao, J.en
dc.contributor.authoret al.en
dc.date.issued2003en
dc.identifier.citationNature Genetics, 2003; 35(4):313-315en
dc.identifier.issn1061-4036en
dc.identifier.issn1546-1718en
dc.identifier.urihttp://hdl.handle.net/2440/7725-
dc.descriptionPublished online 23 November 2003en
dc.description.abstractWe found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.en
dc.description.statementofresponsibilityVera M Kalscheuer, Kristine Freude, Luciana Musante, Lars R Jensen, Helger G Yntema, Jozef Gécz, Abdelaziz Sefiani, Kirsten Hoffmann, Bettina Moser, Stefan Haas, Ulf Gurok, Sebastian Haesler, Beatriz Aranda, Arpik Nshedjan, Andreas Tzschach, Nils Hartmann, Tim-Christoph Roloff, Sarah Shoichet, Olivier Hagens, Jiong Tao, Hans van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean-Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C J Hamel, Susann Schweiger & Hans-Hilger Ropersen
dc.language.isoenen
dc.publisherNature America Incen
dc.rights©2003 Nature Publishing Groupen
dc.subjectHumans; Mental Retardation, X-Linked; Syndrome; Oligopeptides; Carrier Proteins; Nuclear Proteins; Pedigree; Mutation; Molecular Sequence Data; Female; Male; Genetic Linkageen
dc.titleMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationen
dc.typeJournal articleen
dc.identifier.rmid0020031043en
dc.identifier.doi10.1038/ng1264en
dc.identifier.pubid58442-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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