Article
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
The New England journal of medicine - 14 Nov 1996
Yel L, Minegishi Y, Coustan-Smith E, Buckley R H, Trübel H, Pachman L M, Kitchingman G R, Campana D, Rohrer J, Conley M E
Abstract excerpt
BACKGROUND: Most patients with congenital hypogammaglobulinemia and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the gene for Bruton's tyrosine kinase (Btk); however, there are females with a similar disorder who do not have mutations in this gene. We...
Topics
- Agammaglobulinemia
- B-Lymphocytes
- Chromosomes, Human, Pair 14
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Humans
- Immunoglobulin mu-Chains
- Lymphocyte Count
- Male
- Mutation
- Pedigree