Article
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
American journal of human genetics - 1 Aug 1990
Dahl H H, Maragos C, Brown R M, Hansen L L, Brown G K
Abstract excerpt
A 7-bp deletion in the X-chromosomal pyruvate dehydrogenase (PDH) E1 alpha gene was characterized in a female patient with the "cerebral" form of PDH deficiency. The mutation was localized using the chemical cleavage method and further characterized by application of the polymerase chain reaction...
Topics
- Chromosome Deletion
- Dosage Compensation, Genetic
- Gene Expression Regulation, Enzymologic
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pyruvate Dehydrogenase Complex
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Pyruvate Metabolism, Inborn Errors
- Repetitive Sequences, Nucleic Acid
- X Chromosome