Article
Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
Journal of medical genetics - 1 Jun 1997
Brooimans R A, van den Berg A J, Rijkers G T, Sanders L A, van Amstel J K, Tilanus M G, Grubben M J, Zegers B J
Abstract excerpt
Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrel...
Topics
- Adolescent
- Adult
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA Primers
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Humans
- Male
- Mutation