Article
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Pediatrics - 1 Feb 1998
Holinski-Feder E, Weiss M, Brandau O, Jedele K B, Nore B, Bäckesjö C M, Vihinen M, Hubbard S R, Belohradsky B H, Smith C I, Meindl A
Abstract excerpt
OBJECTIVES: To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we investigated 56 X-linked agammaglobulinemia (XLA) families. To obtain genotype/ phenotype correlations, predicted protein aberrat...
Topics
- Adolescent
- Adult
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Base Sequence
- Blotting, Western
- Case-Control Studies
- Child
- Child, Preschool
- DNA Mutational Analysis
- Genetic Linkage
- Genotype
- Humans
- Male