TY  - GEN
AU  - Bourgeron,T
AU  - Rustin,P
AU  - Chretien,D
AU  - Birch-Machin,M
AU  - Bourgeois,M
AU  - Viegas-Péquignot,E
AU  - Munnich,A
AU  - Rötig,A
TI  - Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
SN  - 1061-4036
PY  - 1995///1102
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - Cattle
KW  - Cell Nucleus
KW  - enzymology
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 3
KW  - Cloning, Molecular
KW  - Consanguinity
KW  - DNA Primers
KW  - Electron Transport Complex II
KW  - Electron Transport Complex IV
KW  - metabolism
KW  - Female
KW  - Fibroblasts
KW  - Homozygote
KW  - Humans
KW  - Lymphocytes
KW  - Male
KW  - Mitochondria
KW  - Mitochondria, Muscle
KW  - Molecular Sequence Data
KW  - Multienzyme Complexes
KW  - deficiency
KW  - Muscle, Skeletal
KW  - Mutagenesis, Site-Directed
KW  - Nuclear Family
KW  - Oxidoreductases
KW  - Pedigree
KW  - Point Mutation
KW  - Restriction Mapping
KW  - Saccharomyces cerevisiae
KW  - Sequence Homology, Amino Acid
KW  - Succinate Dehydrogenase
KW  - biosynthesis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng1095-144
ER  -