Article
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
Human mutation - 1 Mar 2009
van Wijk Richard, Huizinga Eric G, van Wesel Annet C W, van Oirschot Brigitte A, Hadders Michael A, van Solinge Wouter W
Abstract excerpt
Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients from 35 unrelated families. Twenty-nine different PKLR mutations were detected, of which 15 are reported here for the...
Topics
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Enzyme-Linked Immunosorbent Assay
- Erythrocytes
- Gene Frequency
- Humans
- Hydrophobic and Hydrophilic Interactions
- Models, Molecular