Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome-Reference-Cited by-同舟云学术

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

Published:2012-05-30 Issue:1 Volume:36 Page:103-112
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Valayannopoulos Vassili,Bakouh Naziha,Mazzuca Michel,Nonnenmacher Luc,Hubert Laurence,Makaci Fatna-Léa,Chabli Allel,Salomons Gajja S.,Mellot-Draznieks Caroline,Brulé Emilie,de Lonlay Pascale,Toulhoat Hervé,Munnich Arnold,Planelles Gabrielle,de Keyzer Yves

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-012-9495-9

Reference34 articles.

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3. Ben-Yona A, Bendahan A, Kanner BI (2011) A glutamine residue conserved in the neurotransmitter:sodium:symporters is essential for the interaction of chloride with the GABA transporter GAT-1. J Biol Chem 286(4):2826–2833

4. Betsalel OT, van de Kamp JM, Martinez-Munoz C et al (2008) Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 9(3):183–190

5. Betsalel OT, Rosenberg EH, Almeida LS et al (2011) Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur J Hum Genet 19(1):56–63

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