Article
Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene.
Tissue antigens - 1 Sept 1996
Lienert K, Russ G, Lester S, Bennett G, Gao X, McCluskey J
Abstract excerpt
A serological family study identified an HLA-A "blank" segregating through three generations of apparently healthy individuals. The HLA-A*0301 allele was assigned by DNA genotyping in each of the three individuals. Complete absence of cellular expression of the HLA-A3 antigen was associated with a 6 nucleotide deletion in exon 3 of the A*0301 gene. The in-frame deletion of nucleotides 373-378 results in the...
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