Partial deletion of GLRB and GRIA2 in a patient with intellectual disability-Reference-Cited by-同舟云学术

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Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Published:2012-06-06 Issue:1 Volume:21 Page:112-114
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hackmann Karl,Matko Sarah,Gerlach Eva-Maria,von der Hagen Maja,Klink Barbara,Schrock Evelin,Rump Andreas,Di Donato Nataliya

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201297.pdf

Reference16 articles.

1. Endele S, Rosenberger G, Geider K et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010; 42: 1021–1026.

2. Wu Y, Arai AC, Rumbaugh G et al. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci USA 2007; 104: 18163–18168.

3. Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P : Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet A 2009; 149A: 1280–1289.

4. Motazacker MM, Rost BR, Hucho T et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 2007; 81: 792–798.

5. Su AI, Wiltshire T, Batalov S et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci USA 2004; 101: 6062–6067.

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