Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene-Reference-Cited by-同舟云学术

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Published:2015-07 Issue:2 Volume:565 Page:187-191
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

DesRoches Caro-Lyne,Patel Jaina,Wang Peixiang,Minassian Berge,Salomons Gajja S.,Marshall Christian R.,Mercimek-Mahmutoglu Saadet

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference28 articles.

1. Exocytotic release of creatine in rat brain;Almeida;Synapse,2006

2. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency;Betsalel;Neurogenetics,2008

3. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database;Betsalel;Eur. J. Hum. Genet.,2011

4. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants;Betsalel;Mol. Genet. Metab.,2012

5. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8;Bizzi;Ann. Neurol.,2002

Cited by 24 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

1. A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8 mice;Brain Research;2024-02

2. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8;Journal of Molecular Biology;2024-01

3. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21

4. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21

5. X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease;Molecular Genetics and Metabolism;2023-11