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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha: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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