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