TY  - GEN
AU  - Baertling,F
AU  - Sánchez-Caballero,L
AU  - van den Brand,M A M
AU  - Fung,C-W
AU  - Chan,S H-S
AU  - Wong,V C-N
AU  - Hellebrekers,D M E
AU  - de Coo,I F M
AU  - Smeitink,J A M
AU  - Rodenburg,R J T
AU  - Nijtmans,L G J
TI  - NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect
SN  - 1399-0004
PY  - 2018///0806
KW  - Cells, Cultured
KW  - Electron Transport Complex I
KW  - genetics
KW  - Fatal Outcome
KW  - HEK293 Cells
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mitochondrial Proteins
KW  - Point Mutation
KW  - Exome Sequencing
KW  - methods
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/cge.13089
ER  -