Article
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
The Journal of biological chemistry - 15 Jan 1992
Sligh J E, Hurwitz M Y, Zhu C M, Anderson D C, Beaudet A L
Abstract excerpt
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disease caused by mutations in the CD18 gene which codes for the beta 2 integrin subunit. We studied two patients, the first of which had a moderate LAD phenotype and expressed only 9% of CD11/CD18 on blood leukocytes. RNA from lymphoblasts was reverse-transcribed, and the cDNA was amplified, cloned, and sequenced. An ATG to AAG alteration in the...
Topics
- Antigens, CD
- Base Sequence
- CD11 Antigens
- CD18 Antigens
- Child
- Codon
- DNA
- Fluorescent Antibody Technique
- Frameshift Mutation
- Humans
- Male
- Molecular Sequence Data