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  Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Jensen, L. R., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., et al. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet, 19(6), 717-20. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21267006 http://www.nature.com/ejhg/journal/v19/n6/pdf/ejhg2010244a.pdf.

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Jensen, L. R.1, Autor           
Chen, W.2, Autor           
Moser, B., Autor
Lipkowitz, B.3, Autor           
Schroeder, C., Autor
Musante, L.3, Autor           
Tzschach, A.2, Autor           
Kalscheuer, V. M.4, Autor           
Meloni, I., Autor
Raynaud, M., Autor
van Esch, H., Autor
Chelly, J., Autor
de Brouwer, A. P., Autor
Hackett, A., Autor
van der Haar, S., Autor
Henn, W., Autor
Gecz, J., Autor
Riess, O., Autor
Bonin, M., Autor
Reinhardt, R.5, Autor           
Ropers, H. H.2, Autor           Kuss, A. W.3, Autor            mehr..
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
5High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              

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Schlagwörter: Carrier Proteins/biosynthesis/*genetics; Chromosomes, Human, X/chemistry; DNA Helicases/biosynthesis/*genetics; Female; Genes, X-Linked; Genetic Association Studies; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hybridization, Genetic; Male; Mental Retardation, X-Linked/*genetics; Nerve Tissue Proteins/biosynthesis/*genetics; Nuclear Proteins/biosynthesis/*genetics; Pedigree; Plasma Membrane Neurotransmitter Transport Proteins/biosynthesis/*genetics; *Polymorphism, Single Nucleotide; Reverse Transcriptase Polymerase Chain Reaction
 Zusammenfassung: X-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.

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 Datum: 2011
 Publikationsstatus: Erschienen
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Titel: Eur J Hum Genet
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 19 (6) Artikelnummer: - Start- / Endseite: 717 - 20 Identifikator: ISSN: 1476-5438 (Electronic) 1018-4813 (Linking)