Article
Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.
American journal of medical genetics - 15 Jun 1991
Harrison H H, Gordon E D, Nichols W C, Benson M D
Abstract excerpt
We report identification, biochemical, clinical, and genetic studies of an apparently benign, electrophoretic variant of serum prealbumin (PALB, transthyretin, TTR) in a North American kindred of Swedish ancestry. The variant polypeptide stems from a C to T point mutation in exon 4 which results...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- Electrophoresis, Gel, Two-Dimensional
- Female
- Genes, Dominant
- Genetic Variation
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree