Article
Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.
Molecular medicine (Cambridge, Mass.) - 1 Jul 1997
Saha B K, Curtis S K, Vogler L B, Vihinen M
Abstract excerpt
BACKGROUND: The Btk (Bruton's tyrosine kinase) gene has been shown to be mutated in the human immunodeficiency disease, XLA (X-linked agammaglobulinemia). Btk is a member of the Tec family of cytosolic protein tyrosine kinases with distinct functional domains PH, TH, SH3, SH2, and kinase. Mutatio...
Topics
- Adult
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Blood Proteins
- Child
- Child, Preschool
- Genetic Linkage
- Humans
- Infant
- Male
- Mutation
- Phosphoproteins
- Polymorphism, Single-Stranded Conformational
- Protein Structure, Tertiary
- Protein-Tyrosine Kinases
- Sequence Homology, Amino Acid
- X Chromosome