Article
Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
Human molecular genetics - 1 Apr 1995
Jin H, Webster A D, Vihinen M, Sideras P, Vorechovsky I, Hammarstróm L, Bernatowska-Matuszkiewicz E, Smith C I, Bobrow M, Vetrie D
Abstract excerpt
X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency resulting from mutations in the gene for a cytoplasmic protein tyrosine kinase (Btk). We have utilised reverse-transcription-based PCR in combination with the chemical cleavage and mismatch technique (CCM) to screen for Btk mutat...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Amino Acids
- Base Sequence
- DNA Primers
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Protein-Tyrosine Kinases
- RNA, Messenger
- Terminator Regions, Genetic
- X Chromosome