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

Pub. Date : 2017 Nov

PMID : 28696212






3 Functional Relationships(s)
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1 Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Thiamine solute carrier family 19 member 3 Homo sapiens
2 Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). Thiamine solute carrier family 19 member 3 Homo sapiens
3 Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). Thiamine solute carrier family 19 member 3 Homo sapiens