Article
Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
The Journal of experimental medicine - 1 Jul 1990
Wardlaw A J, Hibbs M L, Stacker S A, Springer T A
Abstract excerpt
Two patients with leukocyte adhesion deficiency (LAD), one with a moderate phenotype (patient 14) and one with a severe phenotype (patient 2) who had been shown to have a normal sized beta subunit protein precursor, were analyzed in an attempt to determine the molecular basis for their disease. R...
Topics
- Amino Acid Sequence
- Antibodies, Monoclonal
- Antigens, Differentiation
- Base Sequence
- CD18 Antigens
- Cell Adhesion
- Cell Line
- DNA Mutational Analysis
- Flow Cytometry
- Gene Conversion
- Humans
- Immunologic Deficiency Syndromes
- Leukocyte-Adhesion Deficiency Syndrome
- Leukocytes
- Lymphocyte Function-Associated Antigen-1
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes