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Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy |
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Titel: |
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy |
Auteur: |
Fattal-Valevski, Aviva Eliyahu, Hila Fraenkel, NItai D. Elmaliach, Ganit Hausman-Kedem, Moran Shaag, Avraham Mandel, Dror Pines, Ophry Elpeleg, Orly |
Verschenen in: |
Neurogenetics |
Paginering: |
Jaargang 18 (2017) nr. 1 pagina's 57-61 |
Jaar: |
2017 |
Inhoud: |
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Uitgever: |
Springer Berlin Heidelberg, Berlin/Heidelberg |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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