Article
Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.
Blood - 15 Jul 1998
Demina A, Varughese K I, Barbot J, Forman L, Beutler E
Abstract excerpt
Erythrocyte pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. We present 6 previously undescribed mutations of the PKLR gene associated with enzyme deficiency located at cDNA nt 476 G-->T (159Gly-->Val), 884 C-->T (295Ala-->Val), 943 G-->A (315Glu-...
Topics
- Adenosine Diphosphate
- Amino Acid Sequence
- Erythrocytes
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pyruvate Kinase
- Sequence Analysis