Article
Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1.
Blood - 1 Feb 2004
Hixson Patricia, Smith C Wayne, Shurin Susan B, Tosi Michael F
Abstract excerpt
Two novel CD18 mutations were identified in a patient who was a compound heterozygote with type 1 leukocyte adhesion deficiency and whose phenotype was typical except that he exhibited hypertrophic scarring. A deletion of 36 nucleotides in exon 12 (1622del36) predicted the net loss of 12 amino acid (aa) residues in the third cysteine-rich repeat of the extracellular stalk region (mut-1). A nonsense mutation in...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- CD18 Antigens
- COS Cells
- Case-Control Studies
- Cell Adhesion
- Codon, Nonsense
- DNA, Complementary
- Heterozygote
- Humans
- In Vitro Techniques
- Intercellular Adhesion Molecule-1