Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 57, doi. 10.1007/s10048-016-0507-z

By:

• Fattal-Valevski, Aviva;
• Eliyahu, Hila;
• Fraenkel, NItai;
• Elmaliach, Ganit;
• Hausman-Kedem, Moran;
• Shaag, Avraham;
• Mandel, Dror;
• Pines, Ophry;
• Elpeleg, Orly

Publication type:

Article