Baertling, F

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. [electronic resource] - Clinical genetics Jan 2018 - 111-118 p. digital

Publication Type: Case Reports; Journal Article

1399-0004

10.1111/cge.13089 doi


Cells, Cultured
Electron Transport Complex I--genetics
Fatal Outcome
HEK293 Cells
Humans
Infant, Newborn
Male
Mitochondrial Proteins--genetics
Point Mutation
Exome Sequencing--methods