A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.

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Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane

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Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins

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[49] DNA analysis in the diagnosis of hemoglobin disorders

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Ankyrins. Adaptors between diverse plasma membrane proteins and the cytoplasm.

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Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8

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Partial deficiency of erythrocyte spectrin in hereditary spherocytosis

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cDNA sequence for human erythrocyte ankyrin.

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Syndeins: the spectrin-binding protein(s) of the human erythrocyte membrane.

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Ankyrins: structure and function in normal cells and hereditary spherocytes.

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Clinical expression and laboratory detection of red blood cell membrane protein mutations.

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Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

1994 • 99 citations

Identification of the eosinyl-5-maleimide reaction site on the human erythrocyte anion-exchange protein: overlap with the reaction sites of other chemical probes

1990 • 86 citations

Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2

1992 • 81 citations

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

1993 • 76 citations

Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2

1992 • 72 citations

Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin

1991 • 71 citations

Linkage of Dominant Hereditary Spherocytosis to the Gene for the Erythrocyte Membrane-Skeleton Protein Ankyrin

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Complex patterns of sequence variation and multiple 5‘ and 3‘ ends are found among transcripts of the erythroid ankyrin gene

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A New Test for the Laboratory Diagnosis of Spherocytosis

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From anemia to cerebellar dysfunction

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Tissue-specific expression of distinct spectrin and ankyrin transcripts in erythroid and nonerythroid cells.

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Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo.

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Combined ankyrin and spectrin deficiency in hereditary spherocytosis

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Quantitation of protein 3 content of circulating erythrocytes at the single-cell level

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Quantitation of protein 3 content of circulating erythrocytes at the single-cell level

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Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin.

1992 • 14 citations

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

1993 • 11 citations

Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin

1991 • 10 citations