Title : Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

Pub. Date : 2014

PMID : 27896110






2 Functional Relationships(s)
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Protein Name
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1 Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. Thiamine solute carrier family 19 member 3 Homo sapiens
2 Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. Thiamine solute carrier family 19 member 3 Homo sapiens