Article
Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.
Blood - 15 May 1992
Maeda M, Bawle E V, Kulkarni R, Beutler E, Yoshida A
Abstract excerpt
A new case of X chromosome-linked phosphoglycerate kinase (PGK) abnormality is described. The male proband was mentally retarded, had behavior disorders, and displayed episodes of hemolytic anemia. The enzyme activity of red blood cells from the patient was about 10% of normal, and that of the cultured fibroblasts was about 50% of normal cells. The variant PGK was characterized by a lower affinity for the...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cell Line
- Chromosome Aberrations
- Chromosome Disorders
- DNA
- Fibroblasts
- Genetic Variation
- Genomic Library
- Glucosephosphate Dehydrogenase