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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, Sietske H. ; Bugiani, Marianna ; Salomons, Gajja S. ; Feigenbaum, Annette ; Blaser, Susan ; Prasad, Chitra ; Häberle, Johannes ; Barić, Ivo ; Bakker, Ingrid M. C. ; Postma, Nienke L. ; Kanhai, Warsha A. ; Wolf, Nicole I. ; Abbink, Truus E. M. ; Waisfisz, Quinten ; Heutink, Peter ; van der Knaap, Marjo S.

In: Brain, 2013, vol. 136, no. 5, p. 1534-1543