Article
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
Human genetics - 1 Apr 1996
Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, Hayashi Y
Abstract excerpt
Alterations of the Bruton's tyrosine kinase (Btk) gene are responsible for X-linked agammaglobulinemia (XLA). Although mutations in various regions were reported mainly in the Caucasian population, correlation between the locations of mutation and the clinical phenotypes remains unclear. We repor...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Base Sequence
- Genetic Linkage
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein-Tyrosine Kinases
- X Chromosome