Irene Flønes Paweł Sztromwasser Kristoffer Haugarvoll Christian Dölle Maria Lykouri Thomas Schwarzlmüller Inge Jonassen Hrvoje Miletic Stefan Johansson Per M Knappskog Laurence A Bindoff Charalampos Tzoulis
10.1371/journal.pone.0149055
PLoS One
2016 Feb 10;11(2):e0149055.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26863430/
Basal Ganglia / metabolism Basal Ganglia Diseases / genetics Gene Silencing Membrane Transport Proteins / genetics Promoter Regions, Genetic
Basal Ganglia / metabolism Basal Ganglia Diseases / genetics Gene Silencing Membrane Transport Proteins / genetics Promoter Regions, Genetic Case Reports Research Support, Non-U.S. Gov't 5' Untranslated Regions Adolescent Alleles Biotin / metabolism Brain / metabolism Exome Fatal Outcome Female Gene Deletion Genetic Predisposition to Disease Heterozygote Humans Male Mutation Phenotype Sequence Analysis, DNA Siblings Thiamine / metabolism Young Adult 5' Untranslated Regions Membrane Transport Proteins SLC19A3 protein, human Biotin Thiamine Basal ganglia disease, biotin-responsive
PMC4749299
26863430
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
2016