(Q24313340)

GOA release 2020-03-11

spectrin binding

1 reference

GOA release 2020-03-11

hereditary spherocytosis

1 reference

S W Eber

1

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J M Gonzalez

2

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M L Lux

3

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A L Scarpa

4

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W T Tse

5

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M Dornwell

6

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J Herbers

7

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W Kugler

8

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R Ozcan

9

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A Pekrun

10

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P G Gallagher

11

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W Schröter

12

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B G Forget

13

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S E Lux

Combined ankyrin and spectrin deficiency in hereditary spherocytosis

14

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language of work or name

English

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publication date

June 1996

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published in

Nature Genetics

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volume

13

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issue

2

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page(s)

214-8

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cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)

1 reference

7 January 2021

1 reference

7 January 2021

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

1 reference

7 January 2021

Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin

1 reference

7 January 2021

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

1 reference

7 January 2021

Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis

1 reference

7 January 2021

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1 reference

7 January 2021

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

7 January 2021

How sensitive is PCR-SSCP?

1 reference

7 January 2021

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

7 January 2021

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

1 reference

7 January 2021

Nonsense mutations and diminished mRNA levels

1 reference

7 January 2021

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

1 reference

7 January 2021

Positively charged residues are important determinants of membrane protein topology

1 reference

7 January 2021

Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis

1 reference

7 January 2021

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

7 January 2021

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

7 January 2021