(Q47594115)

4 February 2018

title

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent (English)

1 reference

4 February 2018

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Le Gac G

1

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4 February 2018

Mons F

2

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4 February 2018

Jacolot S

3

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4 February 2018

Scotet V

4

1 reference

4 February 2018

Férec C

5

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4 February 2018

Frébourg T

6

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4 February 2018

language of work or name

English

0 references

publication date

1 June 2004

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4 February 2018

British Journal of Haematology

published in

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4 February 2018

volume

125

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4 February 2018

issue

5

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4 February 2018

page(s)

674-678

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4 February 2018

Genetics of haemochromatosis

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

Localization of iron metabolism–related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04950.X

10.1111/J.1365-2141.2004.04950.X

21 January 2018

Identifiers

DOI

1 reference

4 February 2018

PubMed ID

15147384

1 reference

4 February 2018