Article
Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene.
Gene - 15 Oct 1993
Figlewicz D A, Rouleau G A, Krizus A, Julien J P
Abstract excerpt
The C-terminal region of the human neurofilament heavy subunit (NEFH) contains a unique functional domain consisting of 43 repeat motifs of the amino acids (aa) Lys-Ser-Pro (KSP) with either 3- or 5-aa spacers in between. Past studies have demonstrated that the serine in these KSP motifs can be p...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Genetic Variation
- Humans
- Molecular Sequence Data
- Neurofilament Proteins
- Phosphorylation
- Polymerase Chain Reaction
- Polymorphism, Genetic
