DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

References

Kevelam SH, Bugiani M, Salomons GS. , et al.
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Brain 2013;
136 (Pt 5): 1534-1543

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