A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na(+)‐dependent organic cation transporter novel 2 (OCTN2). Genetic diagnostic yield for this metabolic disorder has been relatively low, suggesting that disease‐causing variants are missed. We Sanger se...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, van Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6790604/
https://ncbi.nlm.nih.gov/pubmed/31187905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23839
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