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

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 p...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039501/
https://ncbi.nlm.nih.gov/pubmed/20717164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.134
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