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Updated: Jun 3, 2025

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
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Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess

Published on: June 1, 2022

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Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

María Alcázar-Fabra1,2,3, Elsebet Østergaard4,5, Daniel J M Fernández-Ayala1,2,3

  • 1Andalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.

Molecular Genetics and Metabolism Reports
|January 6, 2025
PubMed
Abstract

Keywords:
COQ4Coenzyme Q10 deficiencyHybrid minigeneMitochondrial disorderSpliceogenic variantWES

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