Article
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
The Journal of clinical investigation - 1 May 1990
Naito E, Indo Y, Tanaka K
Abstract excerpt
Two distinct mutant alleles of the precursor (p) short chain acyl-CoA dehydrogenase (SCAD) gene were identified in a SCAD-deficient patient (YH2065) using the polymerase chain reaction to amplify cDNA synthesized from total RNA from her fibroblasts. Cells from this patient had previously been sho...
Topics
- Acyl-CoA Dehydrogenases
- Alleles
- Blotting, Southern
- Butyryl-CoA Dehydrogenase
- Cell Line
- Cells, Cultured
- Cloning, Molecular
- Female
- Genetic Variation
- Genomic Library
- Humans
- Lipid Metabolism, Inborn Errors
- Mutation
- Polymerase Chain Reaction
- RNA