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Article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

European journal of human genetics : EJHG - 1 Jan 2011

Betsalel Ofir T, Rosenberg Efraim H, Almeida Ligia S, Kleefstra Tjitske, Schwartz Charles E, Valayannopoulos Vassili, Abdul-Rahman Omar, Poplawski Nicola, Vilarinho Laura, Wolf Philipp, den Dunnen Johan T, Jakobs Cornelis, Salomons Gajja S

Abstract excerpt

The X-linked creatine transporter defect is caused by mutations in the SLC6A8 gene. Until now, 66 synonymous and intronic variants in SLC6A8 were detected in our laboratory. To gain more insight in the effect of the detected variants, we applied five free web-based splice-site analysis tools to 25 published variants that were stratified as (non-)disease causing. All were correctly predicted to have no effect...

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Identifiers

PMID: 20717164
DOI: 10.1038/ejhg.2010.134
PMCID: PMC3039501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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