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

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 mutat...

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Autors principals: Jensen, Lars R, Chen, Wei, Moser, Bettina, Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M, Meloni, Ilaria, Raynaud, Martine, van Esch, Hilde, Chelly, Jamel, de Brouwer, Arjan P M, Hackett, Anna, van der Haar, Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Ropers, Hans-Hilger, Kuss, Andreas W
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2011
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3110040/
https://ncbi.nlm.nih.gov/pubmed/21267006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.244
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