Article
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
The Journal of clinical investigation - 1 Jan 1994
Jarolim P, Rubin H L, Liu S C, Cho M R, Brabec V, Derick L H, Yi S J, Saad S T, Alper S, Brugnara C
Abstract excerpt
We describe a duplication of 10 nucleotides (2,455-2,464) in the band 3 gene in a kindred with autosomal dominant hereditary spherocytosis and a partial deficiency of the band 3 protein that is reflected by decreased rate of transmembrane sulfate flux and decreased density of intramembrane particles. The mutant allele potentially encodes an abnormal band 3 protein with a 3.5-kD COOH-terminal truncation; however,...
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