NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
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
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