Article
Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
Archives of biochemistry and biophysics - 1 Mar 1996
Ookawara T, Davé V, Willems P, Martin J J, de Barsy T, Matthys E, Yoshida A
Abstract excerpt
The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tissue enzyme deficiency and episodes of muscle contractions and myoglobinuria was examined. Analysis of the patient's DNA showed the existence of a nucleotide transversion A/T - C/G in exon 7. No othe...
Topics
- Adolescent
- Alanine
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA Primers
- Exons
- Genetic Variation
- Glutamic Acid
- Humans
- Introns
- Lymphocytes
- Male
- Molecular Sequence Data
- Phosphoglycerate Kinase
- Point Mutation
- Polymerase Chain Reaction