Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. - Wikidata - awgldk - TriplyDB

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

http://www.wikidata.org/entity/Q35553297

about

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Spectrin tetramer formation is not required for viable development in Drosophila New insights on hereditary erythrocyte membrane defects Calpain-induced proteolysis of beta-spectrins Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.Perinatal onset mevalonate kinase deficiency.Diagnostic approaches for inherited hemolytic anemia in the genetic era Hereditary haemolytic anaemias: unexpected sequelae of mutations in the genes for erythroid membrane skeletal proteins.Erythrocyte disorders in the perinatal period Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family.Hydrops fetalis--has there been a change in diagnostic spectrum and mortality?Of mice and men: the mice were right.Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis.

P2860

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P2860

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

http://www.wikidata.org/entity/Q35553297

description

1995 nî lūn-bûn

@nan

1995 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1995 թվականի մարտին 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

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@ast

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@en

type

label

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@ast

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@en

prefLabel

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@ast

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@en

P1433

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P2860

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P1433

Journal of Clinical Investigation

P1476

Recurrent fatal hydrops fetali ...... rythrocyte beta-spectrin gene.

@en

P2093

Benoit L

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

Forget BG

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Gallagher PG

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Marchesi SL

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Mohandas N

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Morrow JS

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

Tse WT

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

Weed SA

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

P2860

Full-length sequence of the cDNA for human erythroid beta-spectrin

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple he

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation

Crystal structure of the repetitive segments of spectrin

Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

Characterization of human brain cDNA encoding the general isoform of beta-spectrin

Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer

Prediction of the secondary structure of proteins from their amino acid sequence

A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216)

P304

1174-1182

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P31

scholarly article

P356

10.1172/JCI117766

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P433

3

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P478

95

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P577

1995-03-01T00:00:00Z

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P698

7883966

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P932

441455

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