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Genetic disorders of the red cell membranes

Genetic disorders of the red cell membranes

http://www.wikidata.org/entity/Q28295517

about

The molecular basis of disorders of the red cell membrane Clinical course of 63 children with hereditary spherocytosis: a retrospective study.The structure and function of band 3 (AE1): recent developments (review).

P2860

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P2860

Genetic disorders of the red cell membranes

http://www.wikidata.org/entity/Q28295517

description

1995 nî lūn-bûn

@nan

1995 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1995 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1995年の論文

@ja

1995年論文

@yue

1995年論文

@zh-hant

1995年論文

@zh-hk

1995年論文

@zh-mo

1995年論文

@zh-tw

1995年论文

@wuu

name

Genetic disorders of the red cell membranes

@ast

Genetic disorders of the red cell membranes

@en

Genetic disorders of the red cell membranes

@nl

type

label

Genetic disorders of the red cell membranes

@ast

Genetic disorders of the red cell membranes

@en

Genetic disorders of the red cell membranes

@nl

prefLabel

Genetic disorders of the red cell membranes

@ast

Genetic disorders of the red cell membranes

@en

Genetic disorders of the red cell membranes

@nl

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P356

0014-5793(95)00460-Q

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P1476

Genetic disorders of the red cell membranes

@en

P2093

J Delaunay

http://www.w3.org/2001/XMLSchema#string

P2860

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene

Erythrocyte spectrin is comprised of many homologous triple helical segments

A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia

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.

Analysis of the three-alpha-helix motif in the spectrin superfamily of proteins.

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

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

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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34-7

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scholarly article

P356

10.1016/0014-5793(95)00460-Q

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1

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369

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1995-08-01T00:00:00Z

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7641880

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