Konu "Leukoencephalopathy" için WoS İndeksli Yayınlar Koleksiyonu listeleme
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A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
(Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ...