Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Biancheri R; Rossi A; Verbeek HA; Schot R; Corsolini F; Assereto S; Mancini GM; Verheijen FW; Minetti C; Filocamo M; Neurogenetics, 2005, vol. 6, issue 4, p 195, ISSN 13646745. ISBN 13646745.

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