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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

Whitney Whitford, Isobel Hawkins, Emma Glamuzina, Francessa Wilson, Andrew Marshall, Fern Ashton, Donald R. Love, Juliet Taylor, Rosamund Hill, Klaus Lehnert, Russell G. Snell, Jessie C. Jacobsen

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a001909. doi: 10.1101/mcs.a001909

PMCID:: PMC5701311

Abstract Article PDF–5.8M

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