Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans-Reference-Cited by-同舟云学术

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Published:2016-08-01 Issue:11 Volume:135 Page:1263-1268
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Alfadhel Majid^ORCID,Nashabat Marwan,Qahtani Hanan Al,Alfares Ahmed,Mutairi Fuad Al,Shaalan Hesham Al,Douglas Ganka V.,Wierenga Klaas,Juusola Jane,Alrifai Muhammad Talal,Arold Stefan T.,Alkuraya Fowzan,Ali Qais Abu

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1719-x.pdf

Reference20 articles.

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3. Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195–201. doi: 10.1093/bioinformatics/bti770

4. Arribas-Gonzalez E, de Juan-Sanz J, Aragon C, Lopez-Corcuera B (2015) Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. J Biol Chem 290:2150–2165. doi: 10.1074/jbc.M114.587055

5. Betz H, Gomeza J, Armsen W, Scholze P, Eulenburg AV (2006) Glycine transporters: essential regulators of synaptic transmission. Biochem Soc Trans 34:55–58. doi: 10.1042/BST0340055

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