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Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data
Primary ubiquinone (UQ) deficiency is an important subset of mitochondrial disease that is caused by mutations in UQ biosynthesis genes. To guide therapeutic efforts we sought to estimate the number of individuals who are born with pathogenic variants likely to cause this disorder. We used the NCBI...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735152/ https://www.ncbi.nlm.nih.gov/pubmed/29255295 http://dx.doi.org/10.1038/s41598-017-17564-y |