(Q43721045)

English

Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis.

scientific article published in June 2000

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10940080%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10940080%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1

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9 November 2019

author name string

C Seidl

2

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9 November 2019

S Schilling

3

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9 November 2019

A Braner

4

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9 November 2019

E Seifried

5

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9 November 2019

D Hoelzer

6

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9 November 2019

J P Kaltwasser

7

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9 November 2019

publication date

1 June 2000

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9 November 2019

International Journal of Immunogenetics

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9 November 2019

27

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9 November 2019

3

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9 November 2019

129-134

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9 November 2019

The significance of the 187G (H63D) mutation in hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Mutation analysis in hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Clinical and biochemical abnormalities in people heterozygous for hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Cloning and characterization of a mammalian proton-coupled metal-ion transporter

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Juvenile hemochromatosis locus maps to chromosome 1q.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

The laboratory assessment of iron status--an update

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

HFE gene knockout produces mouse model of hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Hereditary hemochromatosis: aHpal polymorphism within the HLA-H gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2370.2000.00215.X

21 January 2018

Identifiers

10.1046/J.1365-2370.2000.00215.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10940080%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10940080%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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