Article
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
Human mutation - 1 Jan 1992
Dahl H H, Brown G K, Brown R M, Hansen L L, Kerr D S, Wexler I D, Patel M S, De Meirleir L, Lissens W, Chun K
Abstract excerpt
We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1 alpha gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients....
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- Codon
- Exons
- Female
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis