DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

References

Whitford W, Hawkins I, Glamuzina E. , et al.
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Cold Spring HarbMol Case Stud 2017;
3 (06) a001909

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