Article
Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred.
British journal of haematology - 1 Sept 1995
Turner G, Fletcher J, Elber J, Yanagawa Y, Davé V, Yoshida A
Abstract excerpt
The X-chromosome-linked phosphoglycerate kinase (PGK) deficiency associated with severe chronic and acute haemolytic anaemia and mental disorders was first described in a large Chinese kindred in 1969. The molecular abnormality of this original variant remained to be identified. The red cell PGK activity was only about 5%, but the activity of the patients' lymphoblastoid cells was about 15% of normal. The PGK...
Topics
- Anemia, Hemolytic, Congenital
- Base Sequence
- Female
- Genetic Variation
- Genotype
- Humans
- Male
- Mental Disorders
- Models, Molecular
- Molecular Sequence Data
- Pedigree