Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1-Reference-Cited by-同舟云学术

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

Published:2011-01-26 Issue:6 Volume:19 Page:717-720
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010244.pdf

Reference16 articles.

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3. Gécz J, Shoubridge C, Corbett M : The genetic landscape of intellectual disability arising from chromosome X. Trends Genet 2009; 25: 308–316.

4. Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M : High-throughput resequencing in the diagnosis of BRCA 1/2 mutations using oligonucleotide resequencing microarrays. Breast Cancer Res Treat 2010; 122: 287–297.

5. Longo I, Frints SG, Fryns JP et al: A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 2003; 40: 11–17.

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