Associated Papers
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants.
Wang N et al.
Frontiers in Genetics, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ6
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF et al.
The Journal of Clinical Investigation, 2011
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