Article
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
Blood - 1 Feb 1995
Jarolim P, Rubin H L, Brabec V, Chrobak L, Zolotarev A S, Alper S L, Brugnara C, Wichterle H, Palek J
Abstract excerpt
To elucidate the molecular basis of band 3 deficiency in a recently defined subset of patients with autosomal dominant hereditary spherocytosis (HS), we screened band 3 cDNA for single-strand conformation polymorphism (SSCP). In 5 of 17 (29%) unrelated HS subjects with band 3 deficiency, we detected substitutions R760W, R760Q, R808C, and R870W that were all coinherited with the HS phenotype. The involved...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.