(Q50804494)

19 March 2018

title

A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene. (English)

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19 March 2018

author name string

A C Argent

1

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19 March 2018

M C Chetty

2

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19 March 2018

B Fricke

3

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19 March 2018

Y Bertrand

4

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19 March 2018

N Philippe

5

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19 March 2018

S Khogali

6

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19 March 2018

M von Düring

7

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19 March 2018

J Delaunay

8

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19 March 2018

G W Stewart

9

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19 March 2018

publication date

1 January 2004

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19 March 2018

Journal of Inherited Metabolic Disease

published in

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19 March 2018

volume

27

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19 March 2018

issue

1

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19 March 2018

page(s)

29-46

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19 March 2018

https://scigraph.springernature.com/pub.10.1023/b:boli.0000016624.21475.de

exact match

0 references

cites work

Degenerin similarities

1 reference

12 December 2020

Stomatin, flotillin-1, and flotillin-2 are major integral proteins of erythrocyte lipid rafts

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

The mitochondrial PHB complex: roles in mitochondrial respiratory complex assembly, ageing and degenerative disease

1 reference

12 December 2020

A variant of hereditary stomatocytosis with marked pseudohyperkalaemia

1 reference

12 December 2020

Stomatin: a putative cation transport regulator in the red cell membrane

1 reference

12 December 2020

Genomic organization and 5'-flanking DNA sequence of the murine stomatin gene (Epb72).

1 reference

12 December 2020

Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

A stomatin-like protein necessary for mechanosensation in C. elegans

1 reference

12 December 2020

Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein

1 reference

12 December 2020

Prohibitins regulate membrane protein degradation by the m-AAA protease in mitochondria

1 reference

12 December 2020

An abnormal exercise test response revealing a respiratory chain complex III deficiency

1 reference

12 December 2020

Stomatin immunoreactivity in ciliated cells of the human airway epithelium

1 reference

12 December 2020

Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency

1 reference

12 December 2020

Association of stomatin with lipid-protein complexes in the plasma membrane and the endocytic compartment

1 reference

12 December 2020

The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K

1 reference

12 December 2020

Epithelial sodium channel regulatory proteins identified by functional expression cloning.

1 reference

12 December 2020

The Escherichia coli hflA locus encodes a putative GTP-binding protein and two membrane proteins, one of which contains a protease-like domain

1 reference

12 December 2020

Structure, Organization, and Expression of the Human Band 7.2b Gene, a Candidate Gene for Hereditary Hydrocytosis

1 reference

12 December 2020

Membrane protein degradation by AAA proteases in mitochondria

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12 December 2020

cDNA structure, tissue-specific expression, and chromosomal localization of the murine band 7.2b gene.

1 reference

12 December 2020

Stomatocytosis is absent in "stomatin"-deficient murine red blood cells

1 reference

12 December 2020

The SPFH domain: implicated in regulating targeted protein turnover in stomatins and other membrane-associated proteins

1 reference

12 December 2020

The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b).

1 reference

12 December 2020

Missing band 7 membrane protein in two patients with high Na, low K erythrocytes

1 reference

12 December 2020

A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel

1 reference

12 December 2020

The curious genomic path from leaky red cell to nephrotic kidney.

1 reference

12 December 2020

Ultrastructural localization of cadherin in the adult guinea-pig organ of Corti

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

MEC-2 regulates C. elegans DEG/ENaC channels needed for mechanosensation

1 reference

12 December 2020

Stomatin is a major lipid-raft component of platelet alpha granules

1 reference

12 December 2020

Primary and secondary defects of the mitochondrial respiratory chain

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12 December 2020

The "stomatin" gene and protein in overhydrated hereditary stomatocytosis.

1 reference

12 December 2020

Early Homo and associated artefacts from Asia

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000016624.21475.DE

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/B:BOLI.0000016624.21475.DE

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19 March 2018

Dimensions Publication ID

0 references

1 reference

19 March 2018