SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
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DOI: 10.1016/j.gene.2018.06.058
Abstract: SURF1 is an assembly factor of mitochondrial complex IV, and its mutations are the primary cause of Leigh syndrome in infants. To date, over 100 SURF1 mutations have been reported worldwide, but the spectrum of… read more here.
Keywords: leigh syndrome; surf1 mutations; mutations chinese; patients leigh ... See more keywords