Article
Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.
Biochemical and biophysical research communications - 15 May 1992
Matsuura S, Kishi F, Tsukahara M, Nunoi H, Matsuda I, Kobayashi K, Kajii T
Abstract excerpt
Leukocyte adhesion deficiency is a disorder with mutations of the gene for the beta subunit, a component common to three adhesion molecules; LFA-1, Mac-1 and p150,95. The molecular basis of the disorder was studied in two patients with its severe form. In the first patient, the mutant gene expres...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Cell Adhesion Molecules
- Cells, Cultured
- Child
- DNA
- Exons
- Female
- Genetic Diseases, Inborn
- Humans
- Introns
- Japan
- Leukocytes
- Lymphocyte Function-Associated Antigen-1
- Macromolecular Substances
- Macrophage-1 Antigen
- Male