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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749299/
https://www.ncbi.nlm.nih.gov/pubmed/26863430
http://dx.doi.org/10.1371/journal.pone.0149055

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749299/
https://www.ncbi.nlm.nih.gov/pubmed/26863430
http://dx.doi.org/10.1371/journal.pone.0149055

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