Article
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Human mutation - 1 Aug 2008
Minchiotti Lorenzo, Galliano Monica, Kragh-Hansen Ulrich, Peters Theodore
Abstract excerpt
We have tabulated the 77 currently known mutations of the familiar human blood protein, serum albumin (ALB). A total of 65 mutations result in bisalbuminemia. Physiological and structural effects of these mutations are included where observed. Most of the changes are benign. The majority of them were detected upon clinical electrophoretic studies, as a result of a point mutation of a charged amino acid residue....
Topics
- Electrophoresis, Polyacrylamide Gel
- Humans
- Hypoalbuminemia
- Mutation
- Serum Albumin