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dc.contributor.authorJensen, L.en
dc.contributor.authorWei, C.en
dc.contributor.authorMoser, B.en
dc.contributor.authorLipkowitz, B.en
dc.contributor.authorSchroeder, C.en
dc.contributor.authorMusante, L.en
dc.contributor.authorTzschach, A.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorMeloni, I.en
dc.contributor.authorRaynaud, M.en
dc.contributor.authorVan Esch, H.en
dc.contributor.authorChelly, J.en
dc.contributor.authorde Brouwer, A.en
dc.contributor.authorHackett, A.en
dc.contributor.authorvan der Haar, S.en
dc.contributor.authorHenn, W.en
dc.contributor.authorGecz, J.en
dc.contributor.authorRiess, O.en
dc.contributor.authorBonin, M.en
dc.contributor.authorReinhardt, R.en
dc.contributor.authoret al.en
dc.identifier.citationEuropean Journal of Human Genetics, 2011; 19(6):717-720en
dc.description.abstractX-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.en
dc.description.statementofresponsibilityLars R Jensen... Jozef Gecz... et al.en
dc.publisherNature Publishing Groupen
dc.rights© 2011 Macmillan Publishers Limited. All rights reserved.en
dc.subjectX-linked intellectual disability; X-linked mental retardation; array-based resequencing; mutation analysis; automated PCRen
dc.titleHybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1en
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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