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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2005 | 1 |
2012 | 2 |
2014 | 1 |
2024 | 0 |
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Page 1
Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Tian M, Macdonald RL.
Tian M, et al.
J Neurosci. 2012 Apr 25;32(17):5937-52. doi: 10.1523/JNEUROSCI.5332-11.2012.
J Neurosci. 2012.
PMID: 22539854
Free PMC article.
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The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL.
Huang X, et al.
Neurobiol Dis. 2012 Oct;48(1):115-23. doi: 10.1016/j.nbd.2012.06.013. Epub 2012 Jun 30.
Neurobiol Dis. 2012.
PMID: 22750526
Free PMC article.
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A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI.
Johnston AJ, et al.
Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7.
Neurobiol Dis. 2014.
PMID: 24407264
Free PMC article.
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