Article
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
Human molecular genetics - 1 Jan 1994
Bradley L A, Sweatman A K, Lovering R C, Jones A M, Morgan G, Levinsky R J, Kinnon C
Abstract excerpt
The gene defective in X-linked agammaglobulinemia (XLA) has recently been isolated and identified as btk, a non-receptor protein tyrosine kinase. We have utilized the technique of single strand conformation polymorphism (SSCP) analysis for the btk gene to identify mutations in XLA patients. The btk gene in affected boys from 10 families was analysed and mutations were identified in eight cases; seven of these...
Topics
- Agammaglobulinemia
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- DNA Restriction Enzymes
- DNA Transposable Elements
- Humans
- Lymphocytes
- Male
- Molecular Sequence Data
- Phenotype