(Q47387598)

English

Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction

scientific article published in June 2004

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scholarly article

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction (English)

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

hereditary stomatocytosis

1 reference

based on heuristic

inferred from title

hereditary cryohydrocytosis with reduced stomatin

1 reference

based on heuristic

inferred from title

hereditary cryohydrocytosis with normal stomatin

1 reference

based on heuristic

inferred from title

8

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

author name string

Britta Fricke

1

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Helen G Jarvis

2

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Cecil D L Reid

3

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Patricia Aguilar-Martinez

4

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

A Robert

5

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

P Quittet

6

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Margaret Chetty

7

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Thérèse Cynober

9

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

William F Lande

10

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

William C Mentzer

11

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Monika Düring

12

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Stuart Winter

13

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Jean Delaunay

14

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

Gordon W Stewart

15

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

language of work or name

0 references

publication date

1 June 2004

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

British Journal of Haematology

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

125

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

6

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

796-803

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Temperature effects on cation transport in hereditary stomatocytosis and allied disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Hereditary dehydrated and overhydrated stomatocytosis: recent advances

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Stomatin immunoreactivity in ciliated cells of the human airway epithelium

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Cold storage of 'cryohydrocytosis' red cells: the osmotic susceptibility of the cold-stored erythrocyte

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04965.X

21 January 2018

Identifiers

10.1111/J.1365-2141.2004.04965.X

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

1 reference

Europe PubMed Central

15 January 2018

http://europepmc.org/abstract/MED/15180870

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