Bourgeron, T

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. [electronic resource] - Nature genetics Oct 1995 - 144-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1061-4036

10.1038/ng1095-144 doi


Amino Acid Sequence
Animals
Base Sequence
Cattle
Cell Nucleus--enzymology
Chromosome Mapping
Chromosomes, Human, Pair 3
Cloning, Molecular
Consanguinity
DNA Primers
Electron Transport Complex II
Electron Transport Complex IV--metabolism
Female
Fibroblasts--enzymology
Homozygote
Humans
Lymphocytes--enzymology
Male
Mitochondria--enzymology
Mitochondria, Muscle--enzymology
Molecular Sequence Data
Multienzyme Complexes--deficiency
Muscle, Skeletal--enzymology
Mutagenesis, Site-Directed
Nuclear Family
Oxidoreductases--deficiency
Pedigree
Point Mutation
Restriction Mapping
Saccharomyces cerevisiae--enzymology
Sequence Homology, Amino Acid
Succinate Dehydrogenase--biosynthesis