Articles with "mutations presented" as a keyword



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Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report

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Published in 2022 at "Twin Research and Human Genetics"

DOI: 10.1017/thg.2022.11

Abstract: Abstract Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in SLC25A10, resulting in mitochondrial… read more here.

Keywords: quadriparesis; mutations presented; compound heterozygous; heterozygous mutations ... See more keywords