McCormick, Elizabeth M

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. [electronic resource] - Current opinion in pediatrics 12 2018 - 714-724 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

1531-698X

10.1097/MOP.0000000000000686 doi


Computational Biology--trends
DNA, Mitochondrial--genetics
Exome--genetics
Genetic Association Studies
Genetic Testing--trends
High-Throughput Nucleotide Sequencing
Humans
Mitochondrial Diseases--diagnosis
Molecular Diagnostic Techniques--trends
Mutation
Phenotype