Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

BACKGROUND: Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been...

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Veröffentlicht in:PLoS One
Hauptverfasser: Flønes, Irene, Sztromwasser, Paweł, Haugarvoll, Kristoffer, Dölle, Christian, Lykouri, Maria, Schwarzlmüller, Thomas, Jonassen, Inge, Miletic, Hrvoje, Johansson, Stefan, Knappskog, Per M., Bindoff, Laurence A., Tzoulis, Charalampos
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4749299/
https://ncbi.nlm.nih.gov/pubmed/26863430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0149055
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