Hughes, Bryan G

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. [electronic resource] - Scientific reports 12 2017 - 17744 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2045-2322

10.1038/s41598-017-17564-y doi


Ataxia--epidemiology
Databases, Nucleic Acid
Exome
Gene Frequency
High-Throughput Nucleotide Sequencing--methods
Humans
Mitochondrial Diseases--epidemiology
Muscle Weakness--epidemiology
Mutation--genetics
Phenotype
Ubiquinone--deficiency
Exome Sequencing