Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun. 2006;348(2):400–5.
2. Chan KK, Cherk SW, Lee HH, Poon WT, Chan AY. Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene. J Child Neurol. 2014;29(1):111–3.
https://doi.org/10.1177/0883073812465338
.
3. Wang CH, Hernandez CC, Wu J, et al. A missense mutation A384P associated with human Hyperekplexia reveals a desensitization site of Glycine receptors. J Neurosci. 2018;38(11):2818–31.
https://doi.org/10.1523/JNEUROSCI.0674-16.2018
.
4. Tijssen MAJ, Rees MI. Hyperekplexia. Editors In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington; 2007. p. 1993–2018. [updated 2012 Oct 4].
5. Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA. Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation. Pediatr Neurol. 2012;46(2):89–93.
https://doi.org/10.1016/j.pediatrneurol.2011.11.008
.
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献