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

Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and dysphag...

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Detalles Bibliográficos
Publicado en:Cold Spring Harb Mol Case Stud
Main Authors: Whitford, Whitney, Hawkins, Isobel, Glamuzina, Emma, Wilson, Francessa, Marshall, Andrew, Ashton, Fern, Love, Donald R., Taylor, Juliet, Hill, Rosamund, Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701311/
https://ncbi.nlm.nih.gov/pubmed/28696212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001909
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