(Q28137658)

English

Red blood cell membrane disorders

scientific article (publication date: 1999)

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scholarly article

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Europe PubMed Central

Red blood cell membrane disorders (English)

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author name string

W T Tse

1

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S E Lux

2

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publication date

January 1999

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British Journal of Haematology

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104

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2-13

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1

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A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1999.01130.X

21 April 2017

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.1999.01130.X

21 April 2017

Genetic disorders of the red cell membrane

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Ovalocytosis and cerebral malaria.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Splenectomy and subsequent mortality in veterans of the 1939-45 war.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1999.01130.X

21 January 2018

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