NDUFB8 mutation in a neonate with Leigh's disease

The NDUFB8 gene, located at 10q24.31, encodes a nuclear-encoded accessory subunit that is essential for the stability and activity of the mitochondrial complex. In this report, we describe a novel homozygous mutation in the NDUFB8 gene that was associated with mitochondrial complex I deficiency in a...

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Bibliographic Details
Main Authors: Senthil Kumar Arumugam (Author), Venkatesan Manickam (Author)
Format: Book
Published: Hygeia Press di Corridori Marinella, 2022-10-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available